Genomic variant #0001952972

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.11139078_11139079insTAT
Reference Copied from the Exome Variant Server
DB-ID HCCS_000023
Frequency 2/10205
Freq. EA 1/6484
Freq. AA 1/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HCCS NM_001122608.2 ?/? c.573_574insTAT r.(?) p.(Tyr192dup)