Variant #0010906964 (NC_000017.10:g.79108225G>A, NM_001080395.2:c.132C>T (AATK))

Chromosome 17
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.79108225G>A
DB-ID -
dbSNP ID rs56404732
gnomAD frequency 4/244964
gnomAD homozygote count 0/122439
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     
AATK NM_001080395.2 ./. c.132C>T r.(?) p.(Ala44=)
AATK NM_004920.2 ./. c.-2644C>T r.(=) p.(=)