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 | |
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
| Descrption | Source | Links |
|---|---|---|
| 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
Genome browser