Variant #0006378456 (NC_000009.11:g.139926439T>C, NM_001606.4:c.-3847A>G (ABCA2))

Chromosome 9
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.139926439T>C
DB-ID -
dbSNP ID -
gnomAD frequency 2/245560
gnomAD homozygote count 0/122778
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     
ABCA2 NM_001606.4 ./. c.-3847A>G r.(=) p.(=)
FUT7 NM_004479.3 ./. c.5A>G r.(?) p.(Asn2Ser)
C9orf139 NM_207511.1 ./. c.-1066-11T>C r.(=) p.(=)
ABCA2 NM_212533.2 ./. c.-3115A>G r.(=) p.(=)