Variant #0000006548 (NC_000001.11:g.45331833C>G, MUTYH(NM_001128425.1):c.1014G>C)

Individual ID 00001041
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 Maria Laura Gonzalez-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)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
MUTYH NM_001128425.1 -/- 12 c.1014G>C p.(Gln338His) Hetero MSH2 r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001246 DNA SEQ-NG Genia - 15-jan-2020 Specific pathology EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 8 Maria Laura Gonzalez-Hospital Italiano