Variant #0000007232 (NC_000001.11:g.45331833C>G, MUTYH(NM_001048171.1):c.972G>C)

Individual ID 00001281
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
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     

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MUTYH NM_001048171.1 ./- 12 c.972G>C p.(Gln324His) Not specified no r.(?) -



Screenings


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Owner     
0000001520 DNA CNV;SEQ-NG IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) 10-jan-2020 Multigenetic panel - 36 Silvina Sisterna-Hospital de Comunidad