Variant #0012461337 (NC_000021.8:g.43636248T>G, NC_000021.8(NM_207628.1):c.-25+9152T>G (ABCG1))

Chromosome 21
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.43636248T>G
DB-ID -
dbSNP ID rs759270699
gnomAD frequency 3/121400
gnomAD homozygote count 0/60697
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCG1 NM_004915.3 ./. c.-3125T>G r.(=) p.(=)
ABCG1 NM_016818.2 ./. c.-3125T>G r.(=) p.(=)
ABCG1 NM_207174.1 ./. c.-3834T>G r.(=) p.(=)
ABCG1 NM_207628.1 ./. c.-25+9152T>G r.(=) p.(=)
ABCG1 NM_207629.1 ./. c.-18T>G r.(=) p.(=)