Variant #0000010205 (NC_000003.12:g.37000973G>A, MLH1(NM_000249.3):c.226G>A)

Individual ID 00003177
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.37000973G>A
Reference -
DB-ID MLH1_000093
dbSNP ID rs878853788
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital de Córdoba
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


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MLH1 NM_000249.3 ?/? 3 c.226G>A r.(?) p.(Val76Ile) Hetero no -



Screenings


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Owner     
0000003495 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba GASTRIC/GYNECOLOGIC CANCER PANEL (35 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHECK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHC, SDHD, SMAD4, STK11, TP53 22-feb-2024 Multigenetic panel - 2 Claudia Martin-Hospital de Córdoba