Variant #0000515916 (NC_000002.11:g.44078841T>A, ABCG8(NM_022437.2):c.441T>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.44078841T>A
DNA change (hg38) g.43851702T>A
Published as ABCG8(NM_022437.3):c.441T>A (p.C147*)
ISCN -
DB-ID ABCG8_000088
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     
ABCG8 NM_022437.2 +/. - c.441T>A r.(?) p.(Cys147Ter)