Variant #0000368019 (NC_000001.10:g.45804050C>T, MUTYH(NM_001128425.1):c.36+1841G>A)

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.45804050C>T
DNA change (hg38) g.45338378C>T
Published as IVS1+1520 A/G (beta transcript); NM_001048174.1: -7+1521G>A (beta transcript)
ISCN -
DB-ID MUTYH_000164 See all 2 reported entries
Variant remarks -
Reference DUPLICATE – to be removed
ClinVar ID -
dbSNP ID rs3219472
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+1841G>A r.(=) p.(=) -