Variant #0000257071 (NC_000002.11:g.44065792G>A, ABCG8(NM_022437.2):c.-401G>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.44065792G>A
DNA change (hg38) g.43838653G>A
Published as ABCG5(NM_022436.2):c.27C>T (p.P9=), ABCG5(NM_022436.3):c.27C>T (p.P9=)
ISCN -
DB-ID ABCG5_000052 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00095 View details
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.27C>T r.(?) p.(Pro9=)
ABCG8 NM_022437.2 -/. - c.-401G>A r.(?) p.(=)