Variant #0000419838 (NC_000001.10:g.45806053G>A, MUTYH(NM_001128425.1):c.-127C>T)

Individual ID 00203682
Chromosome 1
Allele Parent #1
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.45806053G>A
DNA change (hg38) g.45340381G>A
Published as ex1+8C>T
ISCN -
DB-ID MUTYH_000002 See all 19 reported entries
Variant remarks -
Reference PubMed: Figueroa 2007
ClinVar ID -
dbSNP ID rs3219466
Origin Germline
Segregation -
Frequency 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.-127C>T r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204713 DNA SEQ leukocyte allelic discrimination, test known variant (index) MUTYH 2 Astrid Out