Genomic variant #0000016123

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.9811618C>T
Reference Copied from the Exome Variant Server
DB-ID CLSTN1_000214
Frequency 13/13006
Freq. EA 12/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLSTN1 NM_001009566.1 ?/? c.562G>A r.(?) p.(Val188Met)