Variant #0000008320 (NC_000001.11:g.45331833C>G, MUTYH(NM_001128425.1):c.1014G>C)

Individual ID 00001495
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45331833C>G
Reference -
DB-ID MUTYH_000004 See all 27 reported entries
dbSNP ID -
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     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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Co_ocurrence     

RNA change     

Review status     
MUTYH NM_001128425.1 -/- 12 c.1014G>C p.(Gln338His) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

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Variants found     

Owner     
0000001764 DNA SEQ-NG CEMIC Panel (ATM, BRCA1/2, TP53, BARD1, VHEK2, PALB2, PTEN, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, POLE, POLD1, NBN) 13-apr-2020 Multigenetic panel - 43 Silvina Sisterna-Hospital de Comunidad