Variant #0000006386 (NC_000001.11:g.45331556C>T, MUTYH(NM_001128425.1):c.1187G>A)

Individual ID 00000973
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 21 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marina Antelo-Hospital Udaondo
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     

AscendingTranscript     

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Exon     

DNA change (cDNA)     

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RNA change     

Review status     
MUTYH NM_001128425.1 +/+ 13 c.1187G>A p.(Gly396Asp) Hetero N/A r.(?) -



Screenings


AscendingScreening ID     

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Technique     

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Variants found     

Owner     
0000001170 DNA SEQ-NG;CNV Genesia - Progenitest;COLOR Hereditary Cancer Risk Test (30 genes) 24-jan-2018 Multigenetic panel - 1 Marina Antelo-Hospital Udaondo