Variant #0002135772 (NC_000002.11:g.220088537C>T, NM_005689.2:c.-5142G>A (ABCB6))

Chromosome 2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.220088537C>T
DB-ID -
dbSNP ID rs577554703
gnomAD frequency 22/245408
gnomAD homozygote count 0/122682
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     
ABCB6 NM_005689.2 ./. c.-5142G>A r.(=) p.(=)