Variant #0008781319 (NC_000014.8:g.51348363C>T, NC_000014.8(NM_001206673.1):c.486+19C>T (ABHD12B))

Chromosome 14
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.51348363C>T
DB-ID -
dbSNP ID rs749088583
gnomAD frequency 2/245950
gnomAD homozygote count 0/122973
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12B NM_001206673.1 ./. c.486+19C>T r.(=) p.(=)
ABHD12B NM_181814.1 ./. c.255+19C>T r.(=) p.(=)