Variant #0000084778 (NC_000007.13:g.87041264G>A, ABCB4(NM_018849.2):c.2869C>T)

Individual ID 00054819
Chromosome 7
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.87041264G>A
DNA change (hg38) g.87411948G>A
Published as codon 957 C>T
ISCN -
DB-ID ABCB4_000002 See all 2 reported entries
Variant remarks antibody liver absence of canalicular staining
Reference PubMed: de Vree 1998, OMIM:var0001
ClinVar ID -
dbSNP ID rs121918440
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_018849.2 +/+ 23 c.2869C>T r.2869c>u p.Arg957*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054768 DNA;RNA RT-PCR;SEQ liver biopsy - ABCB4 1 Johan den Dunnen