Variant #0001340655 (NC_000014.8:g.74759615T>C, NC_000014.8(NM_005050.3):c.815-43A>G (ABCD4))

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.74759615T>C
Reference Copied from the {URL:Exome Variant Server:http://evs.gs.washington.edu/EVS/}
DB-ID ABCD4_000119
Frequency 3/13006
Freq. EA 2/8600
Freq. AA 1/4406
Average frequency (gnomAD v.2.1.1) -
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Date created 2013-05-03 16:41:19 +02:00 (CEST)
Date last edited 2018-08-23 01:22:05 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCD4 NM_005050.3 ?/? c.815-43A>G r.(=) p.(=)