Genomic variant #0000167139

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.204172081G>T
Reference Copied from the Exome Variant Server
DB-ID GOLT1A_000026
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GOLT1A NM_198447.1 ?/? c.60C>A r.(?) p.(Phe20Leu)