Variant #0000420151 (NC_000001.10:g.45800146C>T, MUTYH(NM_001128425.1):c.74G>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.45800146C>T
DNA change (hg38) g.45334474C>T
Published as 18811933_test_53_74
ISCN -
DB-ID MUTYH_000026 See all 16 reported entries
Variant remarks In vivo localization assay; Immunofluorescense; cDNAs with c.53C>T+c.74G>A, c.53C>T, c.74G>A or WT (Flag-tagged + polyclonal anti-Flag); transfection cos-7 cells; subcellular localizations; c.53C>T+c.74G>A: nucleus+mitochondria; c.53C>T only: mitochondria; c.74G>A only: mitochondria; wild-type: mitochondria
Reference PubMed: Chen 2008
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00104 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 ?/. 2 c.74G>A r.(?) p.Gly25Asp MTS