Variant #0005363133 (NC_000007.13:g.150923535C>A, NM_007189.2:c.10G>T (ABCF2))

Chromosome 7
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.150923535C>A
DB-ID -
dbSNP ID rs762180707
gnomAD frequency 3/245944
gnomAD homozygote count 0/122969
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     
ABCF2 NM_005692.4 ./. c.10G>T r.(?) p.(Asp4Tyr)
ABCF2 NM_007189.2 ./. c.10G>T r.(?) p.(Asp4Tyr)