Genomic variant #0001151772

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.119020719C>T
Reference Copied from the Exome Variant Server
DB-ID ABCG4_000003
Frequency 98/12984
Freq. EA 80/8586
Freq. AA 18/4398
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCG4 NM_022169.4 ?/? c.44C>T r.(?) p.(Pro15Leu)