Variant #0000418329 (NC_000001.10:g.45800164C>T, MUTYH(NM_001128425.1):c.56G>A)

Individual ID 00202736
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.45800164C>T
DNA change (hg38) g.45334492C>T
Published as -
ISCN -
DB-ID MUTYH_000153 See all 4 reported entries
Variant remarks -
Reference Clinical Genetics, LUMC, Leiden, NL
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Carli Tops
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 ?/. 2 c.56G>A r.(56g>a) p.(Arg19Gln) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203767 DNA PCR leukocyte screen MUTYH gene (index) MUTYH 3 Carli Tops