chr7:87082397:TATATAG> Detail (hg19) (ABCB4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:87,082,397-87,082,403 |
hg38 | chr7:87,453,081-87,453,087 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_018849.2:c.393_399delCTATATA | NP_061337.1:p.Tyr132LysfsTer29 |
NM_000443.3:c.393_399delCTATATA | NP_000434.1:p.Tyr132LysfsTer29 | |
Ensemble | ENST00000265723.8:c.393_399delCTATATA | ENST00000265723.8:p.Tyr132LysfsTer29 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2017-10-18 | no assertion criteria provided | Progressive familial intrahepatic cholestasis type 3 |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.561 | Cholestasis, progressive familial intrahepatic 3 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs) AND Progressive familial intrahepatic cholestasis type ... | 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
- rs387906526 dbSNP
- Genome
- hg19
- Position
- chr7:87,082,397-87,082,403
- Variant Type
- snv
- Reference Allele
- TATATAG
- Alternative Allele
- -
Genome browser