Variant #0000009309 (NC_000001.11:g.45331556C>T, MUTYH(NM_001128425.1):c.1187G>A)

Individual ID 00001965
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 Pablo Kalfayan-Hospital Italiano
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     

Affects function     

Exon     

DNA change (cDNA)     

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Co_ocurrence     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

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Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002252 DNA SEQ-NG Genia Secuenciacion por NGS de genes asociados a Adenopoliposis Colónica Familiar (PAF) APC, MUTYH 17-feb-2022 Specific pathology APC, MUTYH 1 Pablo Kalfayan-Hospital Italiano