chr7:87423905:C>T Detail (hg38) (ABCB4)

Information

Genome

Assembly Position
hg19 chr7:87,053,221-87,053,221 View the variant detail on this assembly version.
hg38 chr7:87,423,905-87,423,905

HGVS

Type Transcript Protein
RefSeq NM_018849.2:c.2211+1G>A
NM_000443.3:c.2211+1G>A
Ensemble ENST00000265723.8:c.2211+1G>A
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-08-20 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-02-18 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
Annotation

Annotations

DescrptionSourceLinks
NM_000443.4(ABCB4):c.2211+1G>A AND not provided ClinVar Detail
NM_000443.4(ABCB4):c.2211+1G>A AND ABCB4-related disorder ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs794727183 dbSNP
Genome
hg38
Position
chr7:87,423,905-87,423,905
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser