Variant #0000419263 (NC_000001.10:g.45805907C>T, MUTYH(NM_001128425.1):c.20G>A)

Individual ID 00203325
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.45805907C>T
DNA change (hg38) g.45340235C>T
Published as 20G>A (Arg7His)
ISCN -
DB-ID MUTYH_000256 See all 3 reported entries
Variant remarks -
Reference Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Rikke Veggerby Groenlund
Database submission license No license selected
Created by Carli Tops
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 1 c.20G>A r.(20g>a) p.(Arg7His) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204356 DNA SEQ leukocyte screen MUTYH gene (index) MUTYH 2 Rikke Veggerby Groenlund