Variant #0000606326 (NC_000002.11:g.169814632_169814633insGTTGTC, ABCB11(NM_003742.2):c.2188_2189insACGACA)

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.169814632_169814633insGTTGTC
DNA change (hg38) g.168958122_168958123insGTTGTC
Published as ABCB11(NM_003742.4):c.2188_2189insACGACA (p.D729_I730insND)
ISCN -
DB-ID ABCB11_000052
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_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB11 NM_003742.2 ?/. - c.2188_2189insACGACA r.(?) p.(Asp729_Ile730insAsnAsp)