chr7:87439761:G>T Detail (hg38) (ABCB4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:87,069,077-87,069,077 View the variant detail on this assembly version. |
hg38 | chr7:87,439,761-87,439,761 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_018849.2:c.1637C>A | NP_061337.1:p.Ala546Asp |
NM_000443.3:c.1637C>A | NP_000434.1:p.Ala546Asp | |
Ensemble | ENST00000265723.8:c.1637C>A | ENST00000265723.8:p.Ala546Asp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2000-05-01 | no assertion criteria provided | Cholestasis, intrahepatic, of pregnancy, 3 |
![]() |
Detail |
![]() |
2018-07-30 | criteria provided, single submitter | not provided |
![]() |
Detail |
![]() |
2022-12-20 | criteria provided, single submitter | not specified |
![]() |
Detail |
![]() |
2023-12-13 | criteria provided, single submitter | ABCB4-related disorder |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) AND Cholestasis, intrahepatic, of pregnancy, 3 | ClinVar | Detail |
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) AND not provided | ClinVar | Detail |
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) AND not specified | ClinVar | Detail |
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) AND ABCB4-related disorder | 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
- rs121918441 dbSNP
- Genome
- hg38
- Position
- chr7:87,439,761-87,439,761
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser