chr7:87406293:G>A Detail (hg38) (ABCB4)

Information

Genome

Assembly Position
hg19 chr7:87,035,609-87,035,609 View the variant detail on this assembly version.
hg38 chr7:87,406,293-87,406,293

HGVS

Type Transcript Protein
RefSeq NM_018849.2:c.3502C>T NP_061337.1:p.Pro1168Ser
NM_000443.3:c.3481C>T NP_000434.1:p.Pro1161Ser
Ensemble ENST00000265723.8:c.3502C>T ENST00000265723.8:p.Pro1168Ser
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 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2001-05-01 no assertion criteria provided Low phospholipid associated cholelithiasis germline Detail
Conflicting interpretations of pathogenicity 2022-10-17 criteria provided, conflicting interpretations not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 cholecystitis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) AND Low phospholipid associated cholelithiasis ClinVar Detail
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) 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
rs121918442 dbSNP
Genome
hg38
Position
chr7:87,406,293-87,406,293
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8644
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)
121390
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.295164346321773E-5
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