chr7:87072662:CT>TTG Detail (hg19) (ABCB4)

Information

Genome

Assembly Position
hg19 chr7:87,072,662-87,072,663
hg38 chr7:87,443,346-87,443,347 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_018849.2:c.1328_1329delinsCAA NP_061337.1:p.Gln443ProfsTer5
NM_000443.3:c.1328_1329delinsCAA NP_000434.1:p.Gln443ProfsTer5
Ensemble ENST00000265723.8:c.1328_1329delinsCAA ENST00000265723.8:p.Gln443ProfsTer5
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 171060 OMIM
HGNC 45 HGNC
Ensembl ENSG00000005471 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
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2001-05-01 no assertion criteria provided Low phospholipid associated cholelithiasis germline Detail
Pathogenic 2001-05-01 no assertion criteria provided Cholestasis, intrahepatic, of pregnancy, 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 NA CLINVAR Detail
0.120 cholecystitis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) AND Low phospholipid associated cholelithiasis ClinVar Detail
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) AND Cholestasis, intrahepatic, of pregnancy, 3 ClinVar Detail
NA DisGeNET Detail
NA 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
rs387906528 dbSNP
Genome
hg19
Position
chr7:87,072,662-87,072,663
Variant Type
snv
Reference Allele
CT
Alternative Allele
TTG
Genome browser