chr7:87453081:TATATAG> Detail (hg38) (ABCB4)

Information

Genome

Assembly Position
hg19 chr7:87,082,397-87,082,403 
hg38 chr7:87,453,081-87,453,087

HGVS

Type Transcript Protein
RefSeq NM_018849.2:c.393_399delCTATATA NP_061337.1:p.Tyr132LysfsTer29
NM_000443.3:c.393_399delCTATATA NP_000434.1:p.Tyr132LysfsTer29
Ensemble ENST00000265723.8:c.393_399delCTATATA ENST00000265723.8:p.Tyr132LysfsTer29
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 2017-10-18 no assertion criteria provided Progressive familial intrahepatic cholestasis type 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.561 Cholestasis, progressive familial intrahepatic 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs) AND Progressive familial intrahepatic cholestasis type ... ClinVar 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
rs387906526 dbSNP
Genome
hg38
Position
chr7:87,453,081-87,453,087
Variant Type
snv
Reference Allele
TATATAG
Alternative Allele
-
Genome browser