chr7:87069002:A> Detail (hg19) (ABCB4)

Information

Genome

Assembly Position
hg19 chr7:87,069,002-87,069,002
hg38 chr7:87,439,686-87,439,686 

HGVS

Type Transcript Protein
RefSeq NM_018849.2:c.1712delT NP_061337.1:p.Val571AspfsTer16
NM_000443.3:c.1712delT NP_000434.1:p.Val571AspfsTer16
Ensemble ENST00000265723.8:c.1712delT ENST00000265723.8:p.Val571AspfsTer16
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 1999-01-16 no assertion criteria provided Progressive familial intrahepatic cholestasis type 3 germline Detail
Pathogenic 1999-01-16 no assertion criteria provided Cholestasis, intrahepatic, of pregnancy, 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.561 Cholestasis, progressive familial intrahepatic 3 NA CLINVAR Detail
0.240 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000443.4(ABCB4):c.1712del (p.Val571fs) AND Progressive familial intrahepatic cholestasis type 3 ClinVar Detail
NM_000443.4(ABCB4):c.1712del (p.Val571fs) 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
rs387906527 dbSNP
Genome
hg19
Position
chr7:87,069,002-87,069,002
Variant Type
snv
Reference Allele
A
Alternative Allele
-
Genome browser