Variant #0000259841 (NC_000002.11:g.169836508_169836509del, ABCB11(NM_003742.2):c.1084-13_1084-12del)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.169836508_169836509del
DNA change (hg38) g.168979998_168979999del
Published as ABCB11(NM_003742.4):c.1084-13_1084-12delCT
ISCN -
DB-ID ABCB11_000026
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license No license selected
Created by VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB11 NM_003742.2 -?/. - c.1084-13_1084-12del r.(=) p.(=)