Variant #0012461359 (NC_000021.8:g.43639366C>T, NC_000021.8(NM_207628.1):c.-24-6415C>T (ABCG1))

Chromosome 21
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.43639366C>T
DB-ID -
dbSNP ID rs770532943
gnomAD frequency 1/171862
gnomAD homozygote count 0/85930
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     
ABCG1 NM_004915.3 ./. c.-7C>T r.(=) p.(=)
ABCG1 NM_016818.2 ./. c.-7C>T r.(=) p.(=)
ABCG1 NM_207174.1 ./. c.-716C>T r.(=) p.(=)
ABCG1 NM_207628.1 ./. c.-24-6415C>T r.(=) p.(=)