Variant #0000419839 (NC_000001.10:g.45806053G>A, MUTYH(NM_001128425.1):c.-127C>T)

Individual ID 00203682
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.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
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