ClinVar Genomic variation as it relates to human health
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
Variation ID: 41637 Accession: VCV000041637.61
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p22.2 3: 37048583 (GRCh38) [ NCBI UCSC ] 3: 37090074 (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 Apr 12, 2013 May 12, 2024 Sep 5, 2013 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000249.4:c.1963A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000240.1:p.Ile655Val missense NM_001167617.3:c.1669A>G NP_001161089.1:p.Ile557Val missense NM_001167618.3:c.1240A>G NP_001161090.1:p.Ile414Val missense NM_001167619.3:c.1240A>G NP_001161091.1:p.Ile414Val missense NM_001258271.2:c.1896+900A>G intron variant NM_001258273.2:c.1240A>G NP_001245202.1:p.Ile414Val missense NM_001258274.3:c.1240A>G NP_001245203.1:p.Ile414Val missense NM_001354615.2:c.1240A>G NP_001341544.1:p.Ile414Val missense NM_001354616.2:c.1240A>G NP_001341545.1:p.Ile414Val missense NM_001354617.2:c.1240A>G NP_001341546.1:p.Ile414Val missense NM_001354618.2:c.1240A>G NP_001341547.1:p.Ile414Val missense NM_001354619.2:c.1240A>G NP_001341548.1:p.Ile414Val missense NM_001354620.2:c.1669A>G NP_001341549.1:p.Ile557Val missense NM_001354621.2:c.940A>G NP_001341550.1:p.Ile314Val missense NM_001354622.2:c.940A>G NP_001341551.1:p.Ile314Val missense NM_001354623.2:c.940A>G NP_001341552.1:p.Ile314Val missense NM_001354624.2:c.889A>G NP_001341553.1:p.Ile297Val missense NM_001354625.2:c.889A>G NP_001341554.1:p.Ile297Val missense NM_001354626.2:c.889A>G NP_001341555.1:p.Ile297Val missense NM_001354627.2:c.889A>G NP_001341556.1:p.Ile297Val missense NM_001354628.2:c.1897-321A>G intron variant NM_001354629.2:c.1864A>G NP_001341558.1:p.Ile622Val missense NM_001354630.2:c.1798A>G NP_001341559.1:p.Ile600Val missense NC_000003.12:g.37048583A>G NC_000003.11:g.37090074A>G NG_007109.2:g.60234A>G LRG_216:g.60234A>G LRG_216t1:c.1963A>G LRG_216p1:p.Ile655Val P40692:p.Ile655Val - Protein change
- I655V, I297V, I414V, I314V, I557V, I600V, I622V
- Other names
- p.I655V:ATC>GTC
- Canonical SPDI
- NC_000003.12:37048582:A:G
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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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0.00260 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 0.00260
1000 Genomes Project 30x 0.00265
The Genome Aggregation Database (gnomAD) 0.00297
Trans-Omics for Precision Medicine (TOPMed) 0.00309
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00323
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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MLH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5624 | 5679 |
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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Benign/Likely benign (5) |
criteria provided, multiple submitters, no conflicts
|
Mar 1, 2024 | RCV000034543.31 | |
Likely benign (1) |
no assertion criteria provided
|
Jun 1, 2014 | RCV000148615.6 | |
Likely benign (2) |
reviewed by expert panel
|
Sep 5, 2013 | RCV000075440.12 | |
Benign/Likely benign (8) |
criteria provided, multiple submitters, no conflicts
|
Aug 15, 2023 | RCV000121364.32 | |
Benign (5) |
criteria provided, multiple submitters, no conflicts
|
Nov 14, 2023 | RCV000130675.13 | |
Benign/Likely benign (5) |
criteria provided, multiple submitters, no conflicts
|
Jul 7, 2023 | RCV000659875.10 | |
Benign (1) |
criteria provided, single submitter
|
Jan 31, 2024 | RCV001083015.9 | |
Likely benign (1) |
criteria provided, single submitter
|
Oct 11, 2021 | RCV002496517.3 |
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. |
|
---|---|---|---|---|---|
Likely benign
(Sep 05, 2013)
|
reviewed by expert panel
Method: research
|
Lynch Syndrome
Affected status: unknown
Allele origin:
germline
|
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
Accession: SCV000106437.3
First in ClinVar: Dec 19, 2013 Last updated: Dec 24, 2022
Comment:
Classified with v1.9 guidelines: https://docs.google.com/file/d/0B3JL6rP6JzhoN2EydHRVMEI1UGs
|
Comment:
MAF 1% in African population
|
|
Benign
(May 01, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000226564.5
First in ClinVar: Jun 28, 2015 Last updated: May 03, 2018 |
Number of individuals with the variant: 1
Sex: mixed
|
|
Likely benign
(Nov 01, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Colorectal cancer, hereditary nonpolyposis, type 2
Affected status: yes
Allele origin:
germline
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
Accession: SCV000781762.1
First in ClinVar: Jul 09, 2018 Last updated: Jul 09, 2018 |
|
|
Likely benign
(Apr 23, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Colorectal cancer, hereditary nonpolyposis, type 2
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001305814.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
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Likely benign
(Jul 07, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Colorectal cancer, hereditary nonpolyposis, type 2
Affected status: yes
Allele origin:
germline
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV004015872.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
|
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Benign
(Jan 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary nonpolyposis colorectal neoplasms
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000166246.13
First in ClinVar: Jun 15, 2014 Last updated: Feb 20, 2024 |
|
|
Benign
(Feb 05, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Lynch syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004843244.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Number of individuals with the variant: 248
|
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Benign
(Nov 18, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000185561.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
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Likely benign
(May 30, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000595805.1
First in ClinVar: Nov 20, 2015 Last updated: Nov 20, 2015 |
|
|
Benign
(Dec 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000805960.1
First in ClinVar: May 03, 2018 Last updated: May 03, 2018 |
|
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Benign
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
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Colorectal cancer, hereditary nonpolyposis, type 2
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001136430.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
|
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Likely benign
(Oct 06, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001433781.1
First in ClinVar: Sep 27, 2020 Last updated: Sep 27, 2020 |
|
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Benign
(Dec 03, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000170300.10
First in ClinVar: Jun 23, 2014 Last updated: Feb 19, 2018 |
Comment:
This variant is associated with the following publications: (PMID: 15133479, 18809606, 26332594, 22703879, 24055113, 16995940, 21056691, 21681552, 25637381, 22736432, 22949387, 20981092, 24728327, 12115348, 27153395, 18561205, … (more)
This variant is associated with the following publications: (PMID: 15133479, 18809606, 26332594, 22703879, 24055113, 16995940, 21056691, 21681552, 25637381, 22736432, 22949387, 20981092, 24728327, 12115348, 27153395, 18561205, 18383312, 16341804, 24933000, 17510385, 31784484) (less)
|
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Benign
(Apr 27, 2021)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002528699.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
|
|
Benign
(Oct 15, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000684785.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
|
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Likely benign
(Oct 11, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Muir-Torré syndrome
Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002812017.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
Likely benign
(Aug 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002550461.4
First in ClinVar: Jul 27, 2022 Last updated: Aug 18, 2023 |
|
|
Benign
(Jun 09, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000889394.4
First in ClinVar: Feb 24, 2015 Last updated: Jan 06, 2024 |
|
|
Benign
(Nov 14, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV004228023.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
|
|
Likely benign
(Mar 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV002821176.9
First in ClinVar: Jan 21, 2023 Last updated: May 12, 2024 |
Comment:
MLH1: BP4
Number of individuals with the variant: 8
|
|
Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
unknown
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000257076.3
First in ClinVar: Nov 20, 2015 Last updated: May 13, 2023 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002034149.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
|
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Benign
(Oct 03, 2023)
|
no assertion criteria provided
Method: research
|
Colorectal cancer, hereditary nonpolyposis, type 2
(Autosomal dominant inheritance)
Affected status: no
Allele origin:
germline
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
Study: ClinSeq
Accession: SCV000043328.2 First in ClinVar: Apr 12, 2013 Last updated: Oct 05, 2023 |
Comment:
BA1 based on allele frequency in AFR of 0.008856 in gnomAD.
Number of individuals with the variant: 4
Comment on evidence:
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for … (more)
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for details. (less)
|
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Likely benign
(Jun 01, 2014)
|
no assertion criteria provided
Method: research
|
Endometrial cancer
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190330.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
|
|
|
Likely benign
(Oct 10, 2017)
|
no assertion criteria provided
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
True Health Diagnostics
Accession: SCV000788021.1
First in ClinVar: Feb 19, 2018 Last updated: Feb 19, 2018 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002034431.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
|
|
not provided
(Sep 19, 2013)
|
no classification provided
Method: reference population
|
AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
|
ITMI
Accession: SCV000085545.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
|
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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Uncertain significance
(-)
|
Flagged submission
flagged submission
Method: clinical testing
Reason: Conflicts with expert reviewed submission without evidence to support different classification
Source: ClinGen
|
not provided
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000592430.3 First in ClinVar: Nov 20, 2015 Last updated: Apr 13, 2021 |
Number of individuals with the variant: 1
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Flagged submissions do not contribute to the aggregate classification or review status for the variant. Learn more |
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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Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging. | Singh P | Nature communications | 2021 | PMID: 34408140 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome. | Houlleberghs H | Journal of medical genetics | 2020 | PMID: 31784484 |
Actionable Genes, Core Databases, and Locus-Specific Databases. | Pinard A | Human mutation | 2016 | PMID: 27600092 |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. | Maxwell KN | American journal of human genetics | 2016 | PMID: 27153395 |
Identification of Medically Actionable Secondary Findings in the 1000 Genomes. | Olfson E | PloS one | 2015 | PMID: 26332594 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis. | Woo HI | Gene | 2014 | PMID: 24933000 |
Actionable, pathogenic incidental findings in 1,000 participants' exomes. | Dorschner MO | American journal of human genetics | 2013 | PMID: 24055113 |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. | Thompson BA | Human mutation | 2013 | PMID: 22949387 |
Comprehensive functional assessment of MLH1 variants of unknown significance. | Borràs E | Human mutation | 2012 | PMID: 22736432 |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. | Johnston JJ | American journal of human genetics | 2012 | PMID: 22703879 |
Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. | Valentin MD | Familial cancer | 2011 | PMID: 21681552 |
Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. | Limburg PJ | Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association | 2011 | PMID: 21056691 |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. | Tournier I | Human mutation | 2008 | PMID: 18561205 |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). | Chao EC | Human mutation | 2008 | PMID: 18383312 |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. | Takahashi M | Cancer research | 2007 | PMID: 17510385 |
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. | Lastella P | BMC genomics | 2006 | PMID: 16995940 |
MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)--description of four novel mutations. | Giraldo A | Familial cancer | 2005 | PMID: 16341804 |
Alterations of DNA mismatch repair proteins and microsatellite instability levels in gastric cancer cell lines. | Yao Y | Laboratory investigation; a journal of technical methods and pathology | 2004 | PMID: 15133479 |
Microsatellite instability and mutation analysis of candidate genes in unselected sardinian patients with endometrial carcinoma. | Baldinu P | Cancer | 2002 | PMID: 12115348 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MLH1 | - | - | - | - |
http://www.insight-database.org/classifications/index.html?gene=MLH1&variant=c.1963A%3EG | - | - | - | - |
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Text-mined citations for rs55907433 ...
HelpRecord last updated Jun 10, 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.