Variant #0000510105 (NC_000002.11:g.169847329T>C, ABCB11(NM_003742.2):c.890A>G)

Chromosome 2
Allele Unknown
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.169847329T>C
DNA change (hg38) g.168990819T>C
Published as ABCB11(NM_003742.2):c.890A>G (p.E297G), ABCB11(NM_003742.4):c.890A>G (p.E297G)
ISCN -
DB-ID ABCB11_000030 See all 5 reported entries
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) 0.00024 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB11 NM_003742.2 +/. - c.890A>G r.(?) p.(Glu297Gly)