chr7:87447080:G>A Detail (hg38) (ABCB4)

Information

Genome

Assembly Position
hg19 chr7:87,076,396-87,076,396 View the variant detail on this assembly version.
hg38 chr7:87,447,080-87,447,080

HGVS

Type Transcript Protein
RefSeq NM_018849.2:c.959C>T NP_061337.1:p.Ser320Phe
NM_000443.3:c.959C>T NP_000434.1:p.Ser320Phe
Ensemble ENST00000265723.8:c.959C>T ENST00000265723.8:p.Ser320Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 2022-05-04 criteria provided, multiple submitters, no conflicts Low phospholipid associated cholelithiasis germline Detail
Pathogenic 2009-10-01 no assertion criteria provided Cholestasis, intrahepatic, of pregnancy, 3 germline unknown Detail
no classifications from unflagged records 2023-07-24 no classifications from unflagged records Progressive familial intrahepatic cholestasis type 3 germline Detail
Pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-03-02 criteria provided, single submitter progressive familial intrahepatic cholestasis germline Detail
Likely pathogenic 2023-11-28 criteria provided, single submitter ABCB4-related disorder 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
0.120 cholecystitis NA CLINVAR Detail
0.094 cholestasis ABCB4(S320F) homozygosity, with half the normal level of ABCB4, is the tipping p... BeFree 24806754 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) AND Low phospholipid associated cholelithiasis ClinVar Detail
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) AND Cholestasis, intrahepatic, of pregnancy, 3 ClinVar Detail
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) AND Progressive familial intrahepatic cholestasis type 3 ClinVar Detail
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) AND not provided ClinVar Detail
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) AND Progressive familial intrahepatic cholestasis ClinVar Detail
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) AND ABCB4-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
ABCB4(S320F) homozygosity, with half the normal level of ABCB4, is the tipping point between more be... 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
rs72552778 dbSNP
Genome
hg38
Position
chr7:87,447,080-87,447,080
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8620
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)
121060
Allele Counts in All Race (ExAC)
14
Heterozygous Counts in All Race (ExAC)
14
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.156451346439782E-4
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