Variant #0000858538 (NC_000002.11:g.44065054G>T, ABCG8(NM_022437.2):c.-1139G>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.44065054G>T
DNA change (hg38) -
Published as ABCG5(NM_022436.2):c.184C>A (p.Q62K)
ISCN -
DB-ID ABCG5_000253
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCG5 NM_022436.2 -?/. - c.184C>A r.(?) p.(Gln62Lys)
ABCG8 NM_022437.2 -?/. - c.-1139G>T r.(?) p.(=)