Variant #0000009931 (NC_000001.11:g.45331556C>T, MUTYH(NM_001048174.1):c.1103G>A)

Individual ID 00002805
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45331556C>T
Reference -
DB-ID MUTYH_000010 See all 24 reported entries
dbSNP ID rs36053993
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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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Review status     
MUTYH NM_001048174.1 +?/+? 13 c.1103G>A p.(Gly368Asp) Hetero no r.(1103g>a) -



Screenings


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0000003117 DNA SEQ-NG IACA Laboratorios ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 14-feb-2024 Multigenetic panel - 1 Silvina Sisterna-Hospital de Comunidad