Variant #0012964528 (NC_000023.10:g.74334642T>A, NM_004299.4:c.196A>T (ABCB7))

Chromosome X
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.74334642T>A
DB-ID -
dbSNP ID rs201637276
gnomAD frequency 2/177847
gnomAD homozygote count 0/122266
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     
ABCB7 NM_001271696.1 ./. c.193A>T r.(?) p.(Thr65Ser)
ABCB7 NM_001271697.1 ./. c.193A>T r.(?) p.(Thr65Ser)
ABCB7 NM_001271699.1 ./. c.196A>T r.(?) p.(Thr66Ser)
ABCB7 NM_004299.4 ./. c.196A>T r.(?) p.(Thr66Ser)