Variant #0000683211 (NC_000002.11:g.169788979A>G, ABCB11(NM_003742.2):c.3121T>C)

Individual ID 00307658
Chromosome 2
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.169788979A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID ABCB11_000067
Variant remarks -
Reference PubMed: Togawa 2016
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     
ABCB11 NM_003742.2 +?/. - c.3121T>C r.(?) p.(Tyr1041His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308799 DNA SEQ - - ABCB11 2 Johan den Dunnen