Variant #0000736489 (NC_000002.11:g.169788931G>A, ABCB11(NM_003742.2):c.3169C>T)

Individual ID 00335721
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.169788931G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID ABCB11_000075
Variant remarks variant linked to cholestasis phenotype
Reference PubMed: Altay 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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     
ABCB11 NM_003742.2 +/. - c.3169C>T r.(?) p.(Arg1057*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000336949 DNA SEQ-NG - clinical exome sequencing - 3 Johan den Dunnen