Variant #0000006535 (NC_000003.12:g.37012099G>A, MLH1(NM_000249.3):c.677G>A)

Individual ID 00001029, 00005727
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.37012099G>A
Reference -
DB-ID MLH1_000048
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marina Antelo-Hospital Udaondo
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
MLH1 NM_000249.3 +/+ 8 c.677G>A r.(?) p.(Arg226Gln) Hetero no -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000001233 DNA SEQ-NG;CNV GENDA;COLOR Hereditary Cancer Risk Test (30 genes) 20-oct-2017 Multigenetic panel - 1 Marina Antelo-Hospital Udaondo
0000009919 DNA SEQ-NG;CNV CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2 19-jan-2026 Multigenetic panel - 2 Guillermo Alberto-Instituto Fleming

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