Variant #0000009478 (NC_000001.11:g.45332035C>T, MUTYH(NM_012222.3):c.976G>A)

Individual ID 00002263
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.45332035C>T
Reference -
DB-ID MUTYH_000024 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laura Vargas Roig-IMBECU
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     
MUTYH NM_012222.3 ?/? 11 c.976G>A p.(Val326Met) Hetero no r.(976g>a) -



Screenings


AscendingScreening ID     

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Owner     
0000002557 DNA SEQ-NG Biogenotec Panel (24 genes) APC, ATM, BMPR1A, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. 21-04-21 Multigenetic panel - 1 Laura Vargas Roig-IMBECU