Genomic variant #0001952951

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.11130229G>T
Reference Copied from the Exome Variant Server
DB-ID HCCS_000002
Frequency 1/10563
Freq. EA 1/6728
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HCCS NM_001122608.2 ?/? c.49G>T r.(?) p.(Ala17Ser)