Variant #0001499050 (NC_000002.11:g.44064963C>T, NM_022437.2:c.-1230C>T (ABCG8))

Chromosome 2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44064963C>T
DB-ID -
dbSNP ID rs140341571
gnomAD frequency 26/246238
gnomAD homozygote count 0/123093
Average frequency (gnomAD v.2.1.1) 0.00011 View details
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     
ABCG5 NM_022436.2 ./. c.265+10G>A r.(=) p.(=)
ABCG8 NM_022437.2 ./. c.-1230C>T r.(=) p.(=)