Variant #0009417250 (NC_000015.9:g.81041893G>A, NM_021214.1:c.630G>A (ABHD17C))

Chromosome 15
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.81041893G>A
DB-ID -
dbSNP ID rs765144974
gnomAD frequency 1/245882
gnomAD homozygote count 0/122940
Average frequency (gnomAD v.2.1.1) Retrieve
Database submission license No license selected
Created by LOVD
Date created 2017-02-27 00:00:00 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABHD17C NM_021214.1 ./. c.630G>A r.(?) p.(Gln210=)