Variant #0005046511 (NC_000007.13:g.87101966T>C, NM_018849.2:c.106A>G (ABCB4))

Chromosome 7
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.87101966T>C
DB-ID -
dbSNP ID -
gnomAD frequency 1/245912
gnomAD homozygote count 0/122955
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     
ABCB4 NM_000443.3 ./. c.106A>G r.(?) p.(Thr36Ala)
ABCB4 NM_018849.2 ./. c.106A>G r.(?) p.(Thr36Ala)
ABCB4 NM_018850.2 ./. c.106A>G r.(?) p.(Thr36Ala)