Variant #0000683002 (NC_000007.13:g.87069546T>C, ABCB4(NM_018849.2):c.1529A>G)

Individual ID 00307438
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.87069546T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID ABCB4_000056
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) 0.00019 View details
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 +?/. - c.1529A>G r.(?) p.(Arg957*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308577 DNA SEQ - - ABCB4 2 Johan den Dunnen