Variant #0000717973 (NC_000002.11:g.169828508T>A, ABCB11(NM_003742.2):c.1487A>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.169828508T>A
DNA change (hg38) -
Published as ABCB11(NM_003742.4):c.1487A>T (p.D496V)
ISCN -
DB-ID ABCB11_000074
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB11 NM_003742.2 +?/. - c.1487A>T r.(?) p.(Asp496Val)