Variant #0000006931 (NC_000001.11:g.45331442G>A, MUTYH(NM_001048171.1):c.1259C>T)

Individual ID 00001219
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.45331442G>A
Reference -
DB-ID MUTYH_000023
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital de Córdoba
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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DNA change (cDNA)     

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RNA change     

Review status     
MUTYH NM_001048171.1 ?/? 13 c.1259C>T p.(Thr420Met) Hetero no r.(?) -



Screenings


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Variants found     

Owner     
0000001455 DNA CNV;SEQ-NG Hospital Privado Centro Médico de Córdoba Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) 5-dec-2019 Multigenetic panel - 3 Claudia Martin-Hospital de Córdoba