Variant #0000084817 (NC_000007.13:g.87069002del, ABCB4(NM_018849.2):c.1712del)

Individual ID 00054853
Chromosome 7
Allele Both (homozygous)
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.87069002del
DNA change (hg38) g.87439686del
Published as 1712delT
ISCN -
DB-ID ABCB4_000003 See all 2 reported entries
Variant remarks -
Reference PubMed: Jacquemin 1999, Journal: Jacquemin 1999, OMIM:var0003
ClinVar ID -
dbSNP ID rs387906527
Origin Germline
Segregation yes
Frequency -
Re-site TaqI-
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_018849.2 +/. 14 c.1712del r.1712del p.Val571Aspfs*16



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054804 DNA;RNA RT-PCR;SEQ - - ABCB4 1 Johan den Dunnen