chr7:87069081:G>C Detail (hg19) (ABCB4)

Information

Genome

Assembly Position
hg19 chr7:87,069,081-87,069,081
hg38 chr7:87,439,765-87,439,765 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_018849.2:c.1633C>G NP_061337.1:p.Arg545Gly
NM_000443.3:c.1633C>G NP_000434.1:p.Arg545Gly
Ensemble ENST00000265723.8:c.1633C>G ENST00000265723.8:p.Arg545Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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 2008-07-01 no assertion criteria provided Low phospholipid associated cholelithiasis germline Detail
Uncertain significance 2023-05-13 criteria provided, single submitter 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.1633C>G (p.Arg545Gly) AND Low phospholipid associated cholelithiasis ClinVar Detail
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly) 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
rs397514620 dbSNP
Genome
hg19
Position
chr7:87,069,081-87,069,081
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser