Genomic variant #0001447354

Chromosome 16
DNA change (genomic) (Relative to hg19 / GRCh37) g.1872248C>T
Reference Copied from the Exome Variant Server
DB-ID HAGH_000112
Frequency 1/4566
Freq. EA 0/3182
Freq. AA 1/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HAGH NM_005326.4 ?/? c.314+53G>A r.(=) p.(=)