Genomic variant #0000368139

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.45802185A>G
DNA change (hg38) g.45336513A>G
Published as -
ISCN -
DB-ID MUTYH_000303 See all 2 reported entries
Variant remarks -
Reference DUPLICATE – to be removed
ClinVar ID -
dbSNP ID rs3219478
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 1i c.37-2002T>C r.(=) p.(=) -