Variant #0010788910 (NC_000017.10:g.67293339C>T, NM_172232.2:c.1429delGinsA (ABCA5))

Chromosome 17
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67293339C>T
DB-ID -
dbSNP ID rs780887221
gnomAD frequency 3/243460
gnomAD homozygote count 0/121726
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     
ABCA5 NM_018672.3 ./. c.1429delGinsA r.(?) p.(Ala477Thr)
ABCA5 NM_172232.2 ./. c.1429delGinsA r.(?) p.(Ala477Thr)