Variant #0000084819 (NC_000007.13:g.87069077G>T, ABCB4(NM_018849.2):c.1637C>A)

Individual ID 00054855
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.87069077G>T
DNA change (hg38) g.87439761G>T
Published as -
ISCN -
DB-ID ABCB4_000004
Variant remarks expression cloning of variant introduced at equivalent position in ABCB1 (MDR1) shows disrupted protein trafficking with subsequent lack of functional protein at cell surface (FACS and Western blot)
Reference PubMed: Dixon 2000, Journal: Dixon 2000, OMIM:var0004
ClinVar ID -
dbSNP ID rs121918441
Origin Germline
Segregation -
Frequency 1/8 cases
Re-site SexAI-
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 +/. 14 c.1637C>A r.(?) p.(Ala546Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054806 DNA SEQ - - ABCB4 1 Johan den Dunnen