Genomic variant #0001974690

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.74288864C>T
Reference Copied from the Exome Variant Server
DB-ID ABCB7_000028
Frequency 5/10563
Freq. EA 0/6728
Freq. AA 5/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCB7 NM_004299.3 ?/? c.1640G>A r.(?) p.(Arg547Lys)