Variant #0000515912 (NC_000002.11:g.44078770G>A, ABCG8(NM_022437.2):c.370G>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.44078770G>A
DNA change (hg38) g.43851631G>A
Published as ABCG8(NM_022437.3):c.370G>A (p.G124S)
ISCN -
DB-ID ABCG8_000084
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) 2.0E-5 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     
ABCG8 NM_022437.2 +?/. - c.370G>A r.(?) p.(Gly124Ser)