Variant #0000257138 (NC_000002.11:g.44078850C>A, ABCG8(NM_022437.2):c.450C>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.44078850C>A
DNA change (hg38) g.43851711C>A
Published as ABCG8(NM_022437.3):c.450C>A (p.H150Q)
ISCN -
DB-ID ABCG8_000021
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) 1.0E-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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCG8 NM_022437.2 +/. - c.450C>A r.(?) p.(His150Gln)