chr7:87082366:G>A Detail (hg19) (ABCB4)

Information

Genome

Assembly Position
hg19 chr7:87,082,366-87,082,366
hg38 chr7:87,453,050-87,453,050 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_018849.2:c.430C>T NP_061337.1:p.Arg144Ter
NM_000443.3:c.430C>T NP_000434.1:p.Arg144Ter
Ensemble ENST00000265723.8:c.430C>T ENST00000265723.8:p.Arg144Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

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 tgv30005231 TogoVar
COSMIC COSM1452572 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2009-10-01 no assertion criteria provided Cholestasis, intrahepatic, of pregnancy, 3 germline Detail
Pathogenic 2022-01-01 criteria provided, single submitter Progressive familial intrahepatic cholestasis type 3 germline Detail
Pathogenic 2023-06-09 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter) AND Cholestasis, intrahepatic, of pregnancy, 3 ClinVar Detail
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter) AND Progressive familial intrahepatic cholestasis type 3 ClinVar Detail
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter) AND not provided 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
rs72552780 dbSNP
Genome
hg19
Position
chr7:87,082,366-87,082,366
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs72552780
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8640
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)
121328
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6484241065541342E-5
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