Variant #0000009948 (NC_000003.12:g.37001057A>G, MLH1(NM_000249.4):c.306+4A>G)

Individual ID 00002841
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.37001057A>G
Reference -
DB-ID MLH1_000085
dbSNP ID rs267607733
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Maria Laura Gonzalez-Hospital Italiano
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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DNA change (cDNA)     

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Review status     
MLH1 NM_000249.4 ?/? 3i c.306+4A>G r.? p.? Hetero no -



Screenings


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Owner     
0000003154 DNA SEQ-NG;CNV Dasa Genómica - Genia Expanded Hereditary Colorectal Cancer Panel with CNV Analysis (23 genes) APC, ATM, AXIN2, BLM, BMPR1A, CHEK2, EPCAM, FLCN, GALNT12, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, PMS2CL, POLD1, POLE, PTEN, SMAD4, STK11, TP53. 15-mar-2024 Multigenetic panel - 1 Maria Laura Gonzalez-Hospital Italiano