chr2:168995403:T>C Detail (hg38) (ABCB11)

Information

Genome

Assembly Position
hg19 chr2:169,851,913-169,851,913 View the variant detail on this assembly version.
hg38 chr2:168,995,403-168,995,403

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000650372.1:c.557A>G ENST00000650372.1:p.Glu186Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603201 OMIM
HGNC 42 HGNC
Ensembl ENSG00000073734 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.126 Cholestasis of pregnancy One mutation (E186G) had been described in one BRIC-2 case; the second mutation ... BeFree 16394881 Detail
Annotation

Annotations

DescrptionSourceLinks
One mutation (E186G) had been described in one BRIC-2 case; the second mutation (V444A) is more freq... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs72551307 dbSNP
Genome
hg38
Position
chr2:168,995,403-168,995,403
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser