Variant #0000009974 (NC_000001.11:g.45331556C>T, MUTYH(NM_001128425.1):c.1187G>A)

Individual ID 00002876
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45331556C>T
Reference -
DB-ID MUTYH_000010 See all 24 reported entries
dbSNP ID -
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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MUTYH NM_001128425.1 +/+ 13 c.1187G>A p.(Gly396Asp) Hetero MUTYH r.(1187g>a) -



Screenings


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Owner     
0000003189 DNA SEQ-NG GENOS;COLOR Hereditary Cancer Genetic Test APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 18-feb-2020 Multigenetic panel - 2 Guillermo Alberto-Instituto Fleming