Genomic variant #0000016060

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.9801233C>T
Reference Copied from the Exome Variant Server
DB-ID CLSTN1_000131
Frequency 12/13006
Freq. EA 0/8600
Freq. AA 12/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLSTN1 NM_001009566.1 ?/? c.1438G>A r.(?) p.(Glu480Lys)