Variant #0000009284 (NC_000001.11:g.45331556C>T, MUTYH(NM_001128425.1):c.1187G>A)

Individual ID 00001928
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 Maria Constanza Vallone-Hospital Austral
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 N/A r.(1187g>a) -



Screenings


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Owner     
0000002215 DNA SEQ-NG Hospital Universitario Austral Panel (30 genes) BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2*, EPCAM*, APC, MUTYH, MITF*, BAP1, CDKN2A, CDK4*, TP53, PTEN, STK11, CDH1, BMPR1A, SMAD4, GREM1*, POLD1*, POLE*, PALB2, CHEK2, ATM, NBN, BARD1, BRIP1, RAD51C, RAD51D 15-jun-2021 Multigenetic panel - 2 Maria Constanza Vallone-Hospital Austral