Genomic variant #0000226883

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.44066269_44066270del
Reference Copied from the Exome Variant Server
DB-ID ABCG8_000006
Frequency 2/10334
Freq. EA 1/6722
Freq. AA 1/3612
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCG8 NM_022437.2 ?/? c.63+14_63+15del r.(=) p.(=)