Genomic variant #0001151827

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.119027711C>T
Reference Copied from the Exome Variant Server
DB-ID ABCG4_000058
Frequency 273/12990
Freq. EA 16/8590
Freq. AA 257/4400
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCG4 NM_022169.4 ?/? c.1055C>T r.(?) p.(Pro352Leu)