Variant #0000368135 (NC_000001.10:g.45803413A>G, MUTYH(NM_001128425.1):c.36+2478T>C)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.45803413A>G
DNA change (hg38) g.45337741A>G
Published as -
ISCN -
DB-ID MUTYH_000299 See all 2 reported entries
Variant remarks -
Reference DUPLICATE – to be removed
ClinVar ID -
dbSNP ID rs3219474
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 1i c.36+2478T>C r.(=) p.(=) -