Variant #0000084777 (NC_000007.13:g.87082397_87082403del, ABCB4(NM_018849.2):c.394_400del)

Individual ID 00054818
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.87082397_87082403del
DNA change (hg38) g.87453081_87453087del
Published as codon 132 TATATACdel
ISCN -
DB-ID ABCB4_000001
Variant remarks antibody liver absence of canalicular staining
Reference PubMed: de Vree 1998, OMIM:var0001
ClinVar ID -
dbSNP ID rs387906526
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 +/+ 6 c.394_400del r.394_400del p.Tyr132Lysfs*29



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054767 DNA;RNA RT-PCR;SEQ;SSCA liver biopsy - ABCB4 1 Johan den Dunnen