chr7:87411948:G>A Detail (hg38) (ABCB4)

Information

Genome

Assembly Position
hg19 chr7:87,041,264-87,041,264 View the variant detail on this assembly version.
hg38 chr7:87,411,948-87,411,948

HGVS

Type Transcript Protein
RefSeq NM_018849.2:c.2869C>T NP_061337.1:p.Arg957Ter
NM_000443.3:c.2869C>T NP_000434.1:p.Arg957Ter
Ensemble ENST00000265723.8:c.2869C>T ENST00000265723.8:p.Arg957Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 tgv350594648 TogoVar
COSMIC COSM3641888 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-10-18 no assertion criteria provided Progressive familial intrahepatic cholestasis type 3 germline Detail
Pathogenic 2017-10-18 no assertion criteria provided Cholestasis, intrahepatic, of pregnancy, 3 germline Detail
Likely pathogenic 2018-12-13 criteria provided, single submitter Low phospholipid associated cholelithiasis germline Detail
Pathogenic 2023-06-25 criteria provided, multiple submitters, no conflicts not provided 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
Annotation

Annotations

DescrptionSourceLinks
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) AND Progressive familial intrahepatic cholestasis type 3 ClinVar Detail
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) AND Cholestasis, intrahepatic, of pregnancy, 3 ClinVar Detail
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) AND Low phospholipid associated cholelithiasis ClinVar Detail
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) AND not provided 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
rs121918440 dbSNP
Genome
hg38
Position
chr7:87,411,948-87,411,948
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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