Variant #0012461462 (NC_000021.8:g.43645920C>T, NM_207628.1:c.116C>T (ABCG1))

Chromosome 21
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.43645920C>T
DB-ID -
dbSNP ID -
gnomAD frequency 4/246262
gnomAD homozygote count 0/123127
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.182C>T r.(?) p.(Thr61Met)
ABCG1 NM_016818.2 ./. c.182C>T r.(?) p.(Thr61Met)
ABCG1 NM_207174.1 ./. c.215C>T r.(?) p.(Thr72Met)
ABCG1 NM_207627.1 ./. c.188C>T r.(?) p.(Thr63Met)
ABCG1 NM_207628.1 ./. c.116C>T r.(?) p.(Thr39Met)
ABCG1 NM_207629.1 ./. c.173C>T r.(?) p.(Thr58Met)