Variant #0007900214 (NC_000012.11:g.40013411G>A, NM_005164.3:c.7C>T (ABCD2))

Chromosome 12
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.40013411G>A
DB-ID -
dbSNP ID rs773860547
gnomAD frequency 1/237342
gnomAD homozygote count 0/118670
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     
ABCD2 NM_005164.3 ./. c.7C>T r.(?) p.(His3Tyr)