Variant #0000683001 (NC_000007.13:g.87041264G>A, ABCB4(NM_018849.2):c.2869C>T)

Individual ID 00307437
Chromosome 7
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.87041264G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID ABCB4_000002 See all 2 reported entries
Variant remarks -
Reference PubMed: Stalke 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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 +?/. - c.2869C>T r.(?) p.(Arg957*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308576 DNA SEQ - - ABCB4 2 Johan den Dunnen