Variant #0000010120 (NC_000003.12:g.36996701G>A, MLH1(NM_000249.4):c.199G>A)

Individual ID 00003063
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.36996701G>A
Reference -
DB-ID MLH1_000001
dbSNP ID rs63750206
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Guillermo Alberto-Instituto Fleming
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


Gene     

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Review status     
MLH1 NM_000249.4 +/+ 2 c.199G>A r.? p.(Gly67Arg) Hetero N/A -



Screenings


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Owner     
0000003380 DNA SEQ-NG;CNV CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS HEREDITARY RECTAL COLON CANCER PANEL (23 genes) APC, ATM, BLM, BMPR1A, BUB1B, CDH1, CHEK2, EPCAM, FLCN, MLH1, MSH2, MSH6, MUTYH, NBN, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD2, STK11, TP53. 27-may-2024 Multigenetic panel - 2 Guillermo Alberto-Instituto Fleming