ClinVar Genomic variation as it relates to human health
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
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
-
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
Variation ID: 37108 Accession: VCV000037108.56
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 19q13.2 19: 41970284 (GRCh38) [ NCBI UCSC ] 19: 42474436 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Dec 7, 2014 Oct 20, 2024 Jan 16, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_152296.5:c.2443G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_689509.1:p.Glu815Lys missense NM_001256213.2:c.2476G>A NP_001243142.1:p.Glu826Lys missense NM_001256214.2:c.2482G>A NP_001243143.1:p.Glu828Lys missense NC_000019.10:g.41970284C>T NC_000019.9:g.42474436C>T NG_008015.1:g.28947G>A LRG_1186:g.28947G>A LRG_1186t1:c.2443G>A LRG_1186p1:p.Glu815Lys P13637:p.Glu815Lys - Protein change
- E815K, E826K, E828K
- Other names
- -
- Canonical SPDI
- NC_000019.10:41970283:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
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 | ||
---|---|---|---|---|---|---|
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. |
|||
ATP1A3 | - | - |
GRCh38 GRCh37 |
1150 | 1171 |
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. |
---|---|---|---|---|
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Dec 10, 2021 | RCV000030750.35 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
|
Dec 27, 2022 | RCV000432504.39 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Apr 28, 2023 | RCV000469482.20 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jan 1, 2017 | RCV000626997.10 | |
Pathogenic (1) |
criteria provided, single submitter
|
Oct 31, 2018 | RCV000763433.10 | |
Pathogenic (1) |
criteria provided, single submitter
|
Oct 1, 2019 | RCV001192636.9 | |
Pathogenic (1) |
criteria provided, single submitter
|
Dec 14, 2018 | RCV001267254.10 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jun 17, 2021 | RCV002243675.9 | |
Pathogenic (2) |
criteria provided, single submitter
|
Jan 3, 2022 | RCV001807744.10 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jan 16, 2024 | RCV004546416.2 |
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. |
|
---|---|---|---|---|---|
Pathogenic
(Apr 18, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Dystonia 12
Affected status: yes
Allele origin:
de novo
|
Baylor Genetics
Accession: SCV001528620.1
First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021 |
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
|
|
Pathogenic
(Dec 10, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Alternating hemiplegia of childhood 2
Affected status: yes
Allele origin:
germline
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
Accession: SCV002061762.2
First in ClinVar: Jan 22, 2022 Last updated: Feb 13, 2022 |
Comment:
PS3, PS4, PP2, PP3, PM1, PM2
|
|
Pathogenic
(Jan 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Global developmental delay
Hemiplegia Oculogyric crisis
Affected status: yes
Allele origin:
unknown
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000747700.1
First in ClinVar: May 12, 2018 Last updated: May 12, 2018 |
|
|
Pathogenic
(Oct 31, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Dystonia 12
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Alternating hemiplegia of childhood 2
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000894199.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
|
|
Pathogenic
(Oct 01, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001360890.1
First in ClinVar: Jun 22, 2020 Last updated: Jun 22, 2020 |
Comment:
Variant summary: ATP1A3 c.2443G>A (p.Glu815Lys) results in a conservative amino acid change located in the Cation-transporting P-type ATPase, C-terminal domain (IPR006068) of the encoded protein … (more)
Variant summary: ATP1A3 c.2443G>A (p.Glu815Lys) results in a conservative amino acid change located in the Cation-transporting P-type ATPase, C-terminal domain (IPR006068) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251402 control chromosomes (gnomAD). c.2443G>A has been reported in the literature in multiple individuals affected with alternating hemiplegia of childhood (AHC) (e.g. Heinzen_2012, Ishii_2013, Rosewich_2012). In most of these individuals, this variant was seen as a de novo mutation and was associated with the severe form of the disease. Heinzen et al and Ishii et al suggest that the recurrence of de novo mutation could be due to its location in hypermutable GC-rich sequences of ATP1A3 (Heinzen_2012, Ishii_2013). These data indicate that the variant is very likely to be associated with disease. In functional studies, the variant was found to have reduced Na+/K+ ATPase activity, loss of forward cycling, proton transport and phosphorylation (Heinzen_2012, Li_2015, and Weigand_2014). Four ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
Pathogenic
(Jun 28, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001450209.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 1
|
|
Pathogenic
(Jan 03, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Developmental and epileptic encephalopathy 99
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002058644.1
First in ClinVar: Jan 15, 2022 Last updated: Jan 15, 2022 |
Comment:
The variant has been previously reported as de novo in a similarly affected individual (PMID: 24842602, PS2_S). Same nucleotide change resulting in same amino acid … (more)
The variant has been previously reported as de novo in a similarly affected individual (PMID: 24842602, PS2_S). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000037108, PMID:22850527, PS1_S). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.941, 3CNET: 0.982, PP3_P). A missense variant is a common mechanism associated with Developmental and epileptic encephalopathy 99 (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Epileptic encephalopathy (present)
|
|
Pathogenic
(Dec 27, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000521282.5
First in ClinVar: Mar 08, 2017 Last updated: Jan 07, 2023 |
Comment:
Functional studies indicate E815K significantly reduces enzyme activity compared to the wild-type (Heinzen et al., 2012; Li et al., 2015); Not observed in large population … (more)
Functional studies indicate E815K significantly reduces enzyme activity compared to the wild-type (Heinzen et al., 2012; Li et al., 2015); Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variants in nearby residues reported in the Human Gene Mutation Database (HGMD); This variant is associated with the following publications: (PMID: 29396171, 28637637, 24842602, 35253165, 24631656, 22842232, 23409136, 22850527, 25681536, 30071271, 28138908, 31164858, 29895895, 31959558, 33082768, 33619735, 32653672, 33726816, 33126486, 31175295, 33098801, 33287870, 31069529, 35701389, 34231463) (less)
|
|
Pathogenic
(Nov 07, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: yes
Allele origin:
unknown
|
Illumina Laboratory Services, Illumina
Accession: SCV003802799.1
First in ClinVar: Feb 18, 2023 Last updated: Feb 18, 2023 |
Comment:
The ATP1A3 c.2443G>A (p.Glu815Lys) missense variant results in the substitution of glutamic acid at amino acid position 815 with lysine. Across a selection of the … (more)
The ATP1A3 c.2443G>A (p.Glu815Lys) missense variant results in the substitution of glutamic acid at amino acid position 815 with lysine. Across a selection of the available literature, the c.2443G>A variant has been identified in a de novo state in 15-20% of individuals with ATP1A3-related neurologic disorders (PMID:20301294; PMID: 23409136; PMID: 26410222). Individuals with the c.2443G>A variant tend to have an earlier age of onset of the first paroxysmal manifestation and first hemiplegic event, with frequent neonatal cases, frequent but short duration plegic attacks, less frequent dystonic attacks with a relatively short duration, abnormal ocular movements, severe cognitive disability with moderate to severe intellectual disability, moderate or severe language problems, motor disability, movement disorders, epilepsy and status epilepticus (PMID: 26410222). This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. The Glu815 residue is located at the intracellular end between the sixth and the seventh transmembrane domains. A knock-in mouse model expressing the E815K variant of the Atp1a3 gene (Atp1a3 E815K+/-, Matoub, Matb+/-), manifests clinical and neurophysiological features of the most severe form of alternating hemiplegia of childhood (AHC), including poor motor initiative, deeply impaired motor performance, and spontaneous and stress induced hemiplegia and dystonia episodes (PMID: 30071271). Based on the available evidence, the c.2443G>A (p.Glu815Lys) variant is classified as pathogenic for ATP1A3-related neurologic disorders. (less)
|
|
Pathogenic
(May 06, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Alternating hemiplegia of childhood 2
Affected status: unknown
Allele origin:
germline
|
Johns Hopkins Genomics, Johns Hopkins University
Accession: SCV001711936.1
First in ClinVar: Jun 08, 2021 Last updated: Jun 08, 2021 |
Comment:
This variant in the ATP1A3 gene is absent from a large population database and has an entry in ClinVar. It has been reported as a … (more)
This variant in the ATP1A3 gene is absent from a large population database and has an entry in ClinVar. It has been reported as a de novo variant in multiple unrelated individuals with alternating hemiplegia of childhood. Individuals with this variant demonstrate an earlier age of onset, more severe motor impairment and a higher prevalence of status epilepticus. Three bioinformatic tools queried predict that this substitution would be damaging, and the glutamate residue at this position is strongly conserved across the vertebrate species assessed. Independent functional studies have shown that this missense change leads to a reduction in ATP1A3 Na+/K+ ATPase activity. We consider this variant to be pathogenic. (less)
|
|
Pathogenic
(Jun 17, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Seizure
Dystonic disorder Dyskinesia Neurodevelopmental delay
Affected status: yes
Allele origin:
germline
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002512692.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
Geographic origin: Brazil
|
|
Pathogenic
(Dec 14, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Inborn genetic diseases
Affected status: yes
Allele origin:
germline
|
Ambry Genetics
Accession: SCV001445435.2
First in ClinVar: Nov 21, 2020 Last updated: Jan 07, 2023 |
Number of individuals with the variant: 1
Clinical Features:
Seizures (present) , Opsoclonus (present) , Rigidity (present) , Nystagmus (present) , Abnormality of eye movement (present)
Sex: female
Ethnicity/Population group: Caucasian
|
|
Pathogenic
(Apr 28, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Dystonia 12
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000544728.9
First in ClinVar: Apr 17, 2017 Last updated: Feb 28, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects ATP1A3 function (PMID: 25681536). Advanced modeling … (more)
For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects ATP1A3 function (PMID: 25681536). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP1A3 protein function. ClinVar contains an entry for this variant (Variation ID: 37108). This missense change has been observed in individual(s) with epilepsy, motor function deficits, cognitive impairment, and respiratory failure (PMID: 22842232, 22850527, 23409136, 24631656). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 815 of the ATP1A3 protein (p.Glu815Lys). (less)
|
|
Pathogenic
(Jan 16, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Seizures
Affected status: yes
Allele origin:
de novo
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
Accession: SCV005043040.1
First in ClinVar: May 12, 2024 Last updated: May 12, 2024 |
Sex: female
|
|
Pathogenic
(Jan 01, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001247064.26
First in ClinVar: May 12, 2020 Last updated: Oct 20, 2024 |
Number of individuals with the variant: 2
|
|
Pathogenic
(Jan 01, 2014)
|
no assertion criteria provided
Method: literature only
|
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000053411.4
First in ClinVar: Apr 04, 2013 Last updated: Apr 21, 2017 |
Comment on evidence:
In 19 patients with alternating hemiplegia of childhood-2 (AHC2; 614820), Heinzen et al. (2012) identified a heterozygous 2443G-A transition in the ATP1A3 gene, resulting in … (more)
In 19 patients with alternating hemiplegia of childhood-2 (AHC2; 614820), Heinzen et al. (2012) identified a heterozygous 2443G-A transition in the ATP1A3 gene, resulting in a glu815-to-lys (E815K) substitution in the sixth transmembrane domain. The mutation was shown to occur de novo in all patients whose parents were available for study. Transfection of the mutation in HeLa cells showed protein levels similar to wildtype, but ATP1A3 activity was significantly decreased. Rosewich et al. (2012) identified a de novo heterozygous E815K mutation in 7 (29%) of 24 AHC2 patients. E815K occurs in the functionally conserved C-terminal cation-transporting ATPase domain and the P-type ATPase domain that is also a transmembrane domain. Functional studies of the variant and studies of patient cells were not performed. Yang et al. (2014) identified a de novo heterozygous E815K mutation in 9 unrelated Chinese children with AHC2. Seven of the patients had epilepsy. (less)
|
|
Pathogenic
(Feb 05, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Alternating hemiplegia of childhood 2
Affected status: yes
Allele origin:
germline
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
Accession: SCV001190829.1
First in ClinVar: Mar 29, 2020 Last updated: Mar 29, 2020 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001953661.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001971538.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
|
|
Pathogenic
(Oct 30, 2023)
|
no assertion criteria provided
Method: clinical testing
|
Developmental and epileptic encephalopathy 99
Affected status: yes
Allele origin:
germline
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
Accession: SCV004099325.1
First in ClinVar: Nov 04, 2023 Last updated: Nov 04, 2023 |
|
|
not provided
(-)
|
no classification provided
Method: literature only
|
Dystonia 12
Affected status: unknown
Allele origin:
germline
|
GeneReviews
Accession: SCV000195716.3
First in ClinVar: Dec 07, 2014 Last updated: Oct 01, 2022 |
|
|
click to load more click to collapse |
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 |
---|---|---|---|---|
Novel E815K knock-in mouse model of alternating hemiplegia of childhood. | Helseth AR | Neurobiology of disease | 2018 | PMID: 30071271 |
ATP1A3-Related Neurologic Disorders. | Adam MP | - | 2018 | PMID: 20301294 |
Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations. | Pavlidis E | Epileptic disorders : international epilepsy journal with videotape | 2017 | PMID: 28637637 |
Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. | Rosewich H | Neurology. Genetics | 2017 | PMID: 28293679 |
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. | Panagiotakaki E | Orphanet journal of rare diseases | 2015 | PMID: 26410222 |
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. | Viollet L | PloS one | 2015 | PMID: 25996915 |
A functional correlate of severity in alternating hemiplegia of childhood. | Li M | Neurobiology of disease | 2015 | PMID: 25681536 |
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. | Yang X | PloS one | 2014 | PMID: 24842602 |
Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. | Weigand KM | Biochimica et biophysica acta | 2014 | PMID: 24631656 |
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. | Ishii A | PloS one | 2013 | PMID: 23409136 |
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. | Rosewich H | The Lancet. Neurology | 2012 | PMID: 22850527 |
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. | Heinzen EL | Nature genetics | 2012 | PMID: 22842232 |
Ouabain binding site in a functioning Na+/K+ ATPase. | Sandtner W | The Journal of biological chemistry | 2011 | PMID: 21911500 |
click to load more click to collapse |
Text-mined citations for rs387907281 ...
HelpRecord last updated Oct 27, 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.