Variant #0000419873 (NC_000001.10:g.45808863G>A, MUTYH(NM_001128425.1):c.-216-2721C>T)

Individual ID 00203708
Chromosome 1
Allele Parent #2
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.45808863G>A
DNA change (hg38) g.45343191G>A
Published as NT_032977.9:g.15780781G>A; rs9429157
ISCN -
DB-ID MUTYH_000288 See all 7 reported entries
Variant remarks NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His
Reference PubMed: Schafmayer 2007
ClinVar ID -
dbSNP ID rs9429157
Origin Germline
Segregation -
Frequency 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02388 View details
Owner Astrid Out
Database submission license No license selected
Created by Astrid Out
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. _1 c.-216-2721C>T r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204739 DNA SEQ leukocyte allelic discrimination, test known variant (group) MUTYH 2 Astrid Out