ClinVar Genomic variation as it relates to human health
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
Variation ID: 41003 Accession: VCV000041003.52
- Type and length
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Microsatellite, 3 bp
- Location
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Cytogenetic: 16q24.3 16: 89740842-89740844 (GRCh38) [ NCBI UCSC ] 16: 89807250-89807252 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 3, 2013 May 12, 2024 Feb 7, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000135.4:c.3782TCT[2] MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000126.2:p.Phe1263del inframe deletion NM_000135.4:c.3788_3790del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_000135.4:c.3788_3790delTCT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_001113525.2:c.*2597GAA[2] MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
3 prime UTR NM_000135.3:c.3788_3790del NM_001286167.3:c.3782TCT[2] NP_001273096.1:p.Phe1263del inframe deletion NM_152287.4:c.*2597GAA[2] 3 prime UTR NR_110122.2:n.4597GAA[2] non-coding transcript variant NR_110126.2:n.4480GAA[2] non-coding transcript variant NR_110128.2:n.4420GAA[2] non-coding transcript variant NR_110129.2:n.4514GAA[2] non-coding transcript variant NC_000016.10:g.89740843GAA[2] NC_000016.9:g.89807251GAA[2] NG_011706.1:g.80808TCT[2] LRG_495:g.80808TCT[2] LRG_495t1:c.3788_3790del - Protein change
- F1263del
- Other names
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- Canonical SPDI
- NC_000016.10:89740841:AGAAGAAGAA:AGAAGAA
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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FANCA | - | - |
GRCh38 GRCh37 |
4075 | 5201 | |
ZNF276 | - | - |
GRCh38 GRCh37 |
46 | 844 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Aug 25, 2023 | RCV000033896.16 | |
not provided (1) |
no classification provided
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Sep 19, 2013 | RCV000120945.2 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Jan 31, 2024 | RCV000231918.13 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jul 1, 2023 | RCV000485336.22 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 7, 2024 | RCV003924889.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jul 26, 2017)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000565881.3
First in ClinVar: Apr 27, 2017 Last updated: Dec 19, 2017 |
Comment:
The c.3788_3790delTCT pathogenic variant in the FANCA gene has been reported previously either in the homozygous state or in combination with another FANCA variant in … (more)
The c.3788_3790delTCT pathogenic variant in the FANCA gene has been reported previously either in the homozygous state or in combination with another FANCA variant in multiple unrelated individuals with Fanconi anemia (Levran et al., 1997; Castella et al., 2011; De Rocco et al., 2014). The c.3788_3790delTCT variant causes an in-frame deletion of one amino acid, Phenylalanine 1263, denoted p.Phe1263del. This amino acid deletion occurs at a position that is conserved across species. Functional studies demonstrated that c.3788_3790delTCT is associated with impaired FANCA function (Adachi et al., 2002). The c.3788_3790delTCT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.3788_3790delTCT as a pathogenic variant. (less)
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Pathogenic
(Apr 05, 2022)
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criteria provided, single submitter
Method: clinical testing
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Fanconi anemia
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002511386.1
First in ClinVar: May 16, 2022 Last updated: May 16, 2022 |
Comment:
Variant summary: FANCA c.3788_3790delTCT (p.Phe1263del) results in an in-frame deletion that is predicted to remove 1 amino acid from the encoded protein. The variant allele … (more)
Variant summary: FANCA c.3788_3790delTCT (p.Phe1263del) results in an in-frame deletion that is predicted to remove 1 amino acid from the encoded protein. The variant allele was found at a frequency of 0.0001 in 250632 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in FANCA causing Fanconi Anemia (0.0001 vs 0.0022), allowing no conclusion about variant significance. c.3788_3790delTCT has been reported in the literature in multiple homozygous and compound heterozygous individuals affected with Fanconi Anemia (e.g. Castella_2011, Pilonetto_2017). These data indicate that the variant is very likely to be associated with disease. Eleven ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Nov 06, 2021)
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criteria provided, single submitter
Method: curation
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Fanconi anemia
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002535025.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The FANCA c.3788_3790delTCT (p.F1263del) variant has been reported as homozygous and compound heterozygous in numerous individuals with Fanconi anemia complementation group A (PMID: 9371798, 31558676, … (more)
The FANCA c.3788_3790delTCT (p.F1263del) variant has been reported as homozygous and compound heterozygous in numerous individuals with Fanconi anemia complementation group A (PMID: 9371798, 31558676, 21273304, 12444097). Functional studies have shown that this variant impairs the protein function and its ability to localize in the nucleus (PMID: 21273304, 12444097). This variant is a well-established pathogenic variant associated with Fanconi anemia (PMID: 9371798). This variant was observed in 28/282004 chromosomes across all populations, with no homozygotes, according to the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). This variant has been reported in ClinVar (Variation ID: 41003). Based on the current evidence available, this variant is interpreted as pathogenic. (less)
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Pathogenic
(Dec 08, 2017)
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criteria provided, single submitter
Method: clinical testing
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Fanconi Anemia
Affected status: yes
Allele origin:
germline
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Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Accession: SCV000996088.1
First in ClinVar: Oct 20, 2019 Last updated: Oct 20, 2019 |
Comment:
This inframe deletion of a single amino acid has been reported as a homozygous and compound heterozygous change in individuals with Fanconi Anemia from ethnically … (more)
This inframe deletion of a single amino acid has been reported as a homozygous and compound heterozygous change in individuals with Fanconi Anemia from ethnically diverse populations (PMID: 9371798, 21273304, 20301575). The highest allele frequency in the ExAC and gnomAD population databases is 0.03% with no reported homozygotes. Based on the available evidence, c.3788_3790delTCT (p. Phe1263del) is classified as pathogenic. (less)
Number of individuals with the variant: 1
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Pathogenic
(Dec 24, 2019)
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criteria provided, single submitter
Method: clinical testing
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Fanconi anemia complementation group A
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001193886.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 03, 2020 |
Comment:
NM_000135.2(FANCA):c.3788_3790delTCT(F1263del) is classified as pathogenic in the context of Fanconi anemia complementation group A. Sources cited for classification include the following: PMID 24584348, 17924555 and … (more)
NM_000135.2(FANCA):c.3788_3790delTCT(F1263del) is classified as pathogenic in the context of Fanconi anemia complementation group A. Sources cited for classification include the following: PMID 24584348, 17924555 and 19367192. Classification of NM_000135.2(FANCA):c.3788_3790delTCT(F1263del) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Feb 01, 2018)
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criteria provided, single submitter
Method: clinical testing
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Fanconi anemia
Affected status: unknown
Allele origin:
germline
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Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV001448737.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 1
Sex: female
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Pathogenic
(Sep 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Fanconi anemia complementation group A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
Additional submitter:
CUBI - Core Unit Bioinformatics, Berlin Institute of Health
Accession: SCV002574811.1
First in ClinVar: Sep 24, 2022 Last updated: Sep 24, 2022 |
Clinical Features:
Splenomegaly (present) , Pancytopenia (present) , Lymphadenopathy (present) , Immunodeficiency (present) , Decreased circulating antibody level (present)
Sex: male
Tissue: Blood
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Pathogenic
(Nov 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002010176.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Pathogenic
(Aug 25, 2023)
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criteria provided, single submitter
Method: clinical testing
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Fanconi anemia complementation group A
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004196051.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(May 16, 2022)
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criteria provided, single submitter
Method: clinical testing
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Fanconi anemia complementation group A
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002811063.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Jan 31, 2023)
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criteria provided, single submitter
Method: clinical testing
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Fanconi anemia complementation group A
Affected status: yes
Allele origin:
germline
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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV003807540.1
First in ClinVar: Mar 04, 2023 Last updated: Mar 04, 2023 |
Comment:
ACMG classification criteria: PS3 supporting, PM2 supporting, PM3 very strong, PM4
Number of individuals with the variant: 1
Clinical Features:
Visual impairment (present) , Cataract (present) , Decreased body weight (present) , Elevated circulating alanine aminotransferase concentration (present) , Diabetes mellitus (present) , Elevated circulating … (more)
Visual impairment (present) , Cataract (present) , Decreased body weight (present) , Elevated circulating alanine aminotransferase concentration (present) , Diabetes mellitus (present) , Elevated circulating hepatic transaminase concentration (present) , Diabetes mellitus type 1 (present) , Short stature (present) , Elevated circulating aspartate aminotransferase concentration (present) (less)
Geographic origin: Brazil
Method: Paired-end whole-genome sequencing
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Pathogenic
(Feb 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV004218582.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
The frequency of this variant in the general population, 0.00017 (6/35374 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been … (more)
The frequency of this variant in the general population, 0.00017 (6/35374 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been reported in the homozygous or compound heterozygous state in many individuals with Fanconi anemia (PMIDs: 28717661 (2017), 24584348 (2014), 22778927 (2012), 21273304 (2011), 21659346 (2011), 19367192 (2009), 17924555 (2008), 10094191 (1999), 9371798 (1997)), and in individuals with hereditary breast cancer (PMID: 32235514 (2020)). This variant is thought to be the most common FANCA mutation in the world, and is present in many different ethnicities, especially Hispanic and Caucasian populations (PMID: 9371798 (1997)). In functional studies, this variant was shown to have a damaging effect on FANCA protein function and cellular interaction (PMIDs: 21273304 (2011), 12444097 (2002)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Fanconi anemia
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000283566.8
First in ClinVar: Jul 01, 2016 Last updated: Feb 20, 2024 |
Comment:
This variant, c.3788_3790del, results in the deletion of 1 amino acid(s) of the FANCA protein (p.Phe1263del), but otherwise preserves the integrity of the reading frame. … (more)
This variant, c.3788_3790del, results in the deletion of 1 amino acid(s) of the FANCA protein (p.Phe1263del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs397507553, gnomAD 0.02%). This variant has been observed in individual(s) with Fanconi anemia (FA) (PMID: 9371798, 15643609, 21273304, 21659346). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 41003). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects FANCA function (PMID: 21273304). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Feb 07, 2024)
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criteria provided, single submitter
Method: clinical testing
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FANCA-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004737600.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The FANCA c.3788_3790delTCT variant is predicted to result in an in-frame deletion (p.Phe1263del). This variant has been reported in the homozygous or compound heterozygous state … (more)
The FANCA c.3788_3790delTCT variant is predicted to result in an in-frame deletion (p.Phe1263del). This variant has been reported in the homozygous or compound heterozygous state in many individuals with Fanconi anemia (Levran et al 1997. PubMed ID: 9371798; Castella et al 2011. PubMed ID: 21273304; Steinberg-Shemer et al. 2020. PubMed ID: 31558676; Thompson et al. 2021. PubMed ID: 33960719). This variant is reported in 0.017% of alleles in individuals of Latino descent in gnomAD, and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/41003/). This variant is interpreted as pathogenic. (less)
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Pathogenic
(Jul 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001246903.21
First in ClinVar: May 12, 2020 Last updated: May 12, 2024 |
Comment:
FANCA: PM3:Strong, PM2, PM4, PS3:Moderate
Number of individuals with the variant: 2
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Pathogenic
(Jan 11, 2022)
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no assertion criteria provided
Method: literature only
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FANCONI ANEMIA, COMPLEMENTATION GROUP A
Affected status: not provided
Allele origin:
unknown
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OMIM
Accession: SCV000886138.2
First in ClinVar: May 03, 2013 Last updated: Jan 14, 2022 |
Comment on evidence:
In a Spanish man (patient 14-339) with nonobstructive azoospermia and Sertoli cell-only syndrome on testicular biopsy, who also had low erythrocyte, leukocyte, and platelet counts … (more)
In a Spanish man (patient 14-339) with nonobstructive azoospermia and Sertoli cell-only syndrome on testicular biopsy, who also had low erythrocyte, leukocyte, and platelet counts and elevated mean corpuscular volume (FANCA; 227650), Krausz et al. (2019) identified compound heterozygosity for an in-frame 3-bp deletion (c.3788_3790delTCT, NM_000135.2) in exon 38 of the FANCA gene, causing deletion of a single residue (phe1263del), and a c.3913C-T transition in exon 39, resulting in a leu1305-to-phe (L1305F; 607139.0015) substitution. The DEB-induced chromosomal breakage test was consistent with somatic mosaicism in the proband. His normozoospermic brother, who had blood counts within the normal range, was heterozygous for the L1305F mutation. The authors stated that both mutations had previously been reported in many patients with Fanconi anemia. (less)
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Pathogenic
(Feb 28, 2020)
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no assertion criteria provided
Method: curation
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Fanconi anemia complementation group A
Affected status: no
Allele origin:
germline
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Leiden Open Variation Database
Accession: SCV001425997.1
First in ClinVar: Sep 27, 2020 Last updated: Sep 27, 2020 |
Comment:
Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Daniela Pilonetto, Johan de Winter, Sue Richards.
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Fanconi anemia, group A
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV001458752.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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not provided
(Sep 19, 2013)
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no classification provided
Method: reference population
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AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
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ITMI
Accession: SCV000085113.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
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Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. | Del Valle J | Cancers | 2020 | PMID: 32235514 |
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population. | Steinberg-Shemer O | Haematologica | 2020 | PMID: 31558676 |
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. | Krausz C | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 29904161 |
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. | Pilonetto DV | Molecular genetics & genomic medicine | 2017 | PMID: 28717661 |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | Bodian DL | PloS one | 2014 | PMID: 24728327 |
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. | De Rocco D | Haematologica | 2014 | PMID: 24584348 |
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. | Gille JJ | Anemia | 2012 | PMID: 22778927 |
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. | Tsangaris E | Journal of medical genetics | 2011 | PMID: 21659346 |
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. | Castella M | Blood | 2011 | PMID: 21273304 |
Validation of Fanconi anemia complementation Group A assignment using molecular analysis. | Moghrabi NN | Genetics in medicine : official journal of the American College of Medical Genetics | 2009 | PMID: 19367192 |
Genetic subtyping of Fanconi anemia by comprehensive mutation screening. | Ameziane N | Human mutation | 2008 | PMID: 17924555 |
Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. | Levran O | Human mutation | 2005 | PMID: 15643609 |
Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. | Adachi D | Human molecular genetics | 2002 | PMID: 12444097 |
High frequency of large intragenic deletions in the Fanconi anemia group A gene. | Morgan NV | American journal of human genetics | 1999 | PMID: 10521298 |
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. | Wijker M | European journal of human genetics : EJHG | 1999 | PMID: 10094191 |
Sequence variation in the Fanconi anemia gene FAA. | Levran O | Proceedings of the National Academy of Sciences of the United States of America | 1997 | PMID: 9371798 |
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Text-mined citations for rs397507553 ...
HelpRecord last updated May 12, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.