Variant #0002826852 (NC_000003.11:g.137849825C>A, NM_016161.2:c.274G>T (A4GNT))

Chromosome 3
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.137849825C>A
DB-ID -
dbSNP ID rs763309134
gnomAD frequency 1/246218
gnomAD homozygote count 0/123107
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     
A4GNT NM_016161.2 ./. c.274G>T r.(?) p.(Asp92Tyr)