Variant #0000257091 (NC_000002.11:g.44066174T>G, ABCG8(NM_022437.2):c.-19T>G)

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.44066174T>G
DNA change (hg38) g.43839035T>G
Published as ABCG8(NM_022437.3):c.-19T>G
ISCN -
DB-ID ABCG8_000001 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) 0.39789 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCG5 NM_022436.2 -/. - c.-356A>C r.(?) p.(=)
ABCG8 NM_022437.2 -/. - c.-19T>G r.(?) p.(=)