chr7:87431528:C>T Detail (hg38) (ABCB4)

Information

Genome

Assembly Position
hg19 chr7:87,060,844-87,060,844 View the variant detail on this assembly version.
hg38 chr7:87,431,528-87,431,528

HGVS

Type Transcript Protein
RefSeq NM_018849.2:c.1769G>A NP_061337.1:p.Arg590Gln
NM_000443.3:c.1769G>A NP_000434.1:p.Arg590Gln
Ensemble ENST00000265723.8:c.1769G>A ENST00000265723.8:p.Arg590Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv30004522 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2018-03-05 criteria provided, conflicting interpretations Cholestasis, intrahepatic, of pregnancy, 3 germline inherited Detail
Uncertain significance 2018-03-05 criteria provided, single submitter Low phospholipid associated cholelithiasis germline inherited Detail
Conflicting interpretations of pathogenicity 2023-08-15 criteria provided, conflicting interpretations not specified germline Detail
Uncertain significance 2018-03-05 criteria provided, single submitter Progressive familial intrahepatic cholestasis type 3 inherited Detail
Conflicting interpretations of pathogenicity 2023-07-18 criteria provided, conflicting interpretations not provided germline Detail
Uncertain significance 2019-05-28 criteria provided, single submitter Progressive familial intrahepatic cholestasis type 1 unknown Detail
not provided no assertion provided ABCB4-related disorder unknown 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.1769G>A (p.Arg590Gln) AND Cholestasis, intrahepatic, of pregnancy, 3 ClinVar Detail
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) AND Low phospholipid associated cholelithiasis ClinVar Detail
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) AND not specified ClinVar Detail
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) AND Progressive familial intrahepatic cholestasis type 3 ClinVar Detail
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) AND not provided ClinVar Detail
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) AND Progressive familial intrahepatic cholestasis type 1 ClinVar Detail
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) AND ABCB4-related disorder 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
rs45575636 dbSNP
Genome
hg38
Position
chr7:87,431,528-87,431,528
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
117.64
Standard deviation of sample read depth (HGVD)
52.60
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
ABCB4
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121370
Allele Counts in All Race (ExAC)
507
Heterozygous Counts in All Race (ExAC)
503
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.00417730905495592
Genome browser