Genomic variant #0000076770

Individual ID 00047863
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.45798475T>C
DNA change (hg38) g.45332803T>C
Published as -
ISCN -
DB-ID MUTYH_000012 See all 568 reported entries
Variant remarks -
Reference PubMed: Puijenbroek 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00215 View details
Owner James Whitworth




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 +/. 7 c.536A>G pathogenic r.(?) p.(Tyr179Cys) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047989 DNA SEQ - - MSH6, MUTYH 3 James Whitworth