chr7:87439686:A> Detail (hg38) (ABCB4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:87,069,002-87,069,002 |
hg38 | chr7:87,439,686-87,439,686 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_018849.2:c.1712delT | NP_061337.1:p.Val571AspfsTer16 |
NM_000443.3:c.1712delT | NP_000434.1:p.Val571AspfsTer16 | |
Ensemble | ENST00000265723.8:c.1712delT | ENST00000265723.8:p.Val571AspfsTer16 |
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 |
---|---|---|---|---|---|
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1999-01-16 | no assertion criteria provided | Progressive familial intrahepatic cholestasis type 3 |
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Detail |
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1999-01-16 | no assertion criteria provided | Cholestasis, intrahepatic, of pregnancy, 3 |
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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.1712del (p.Val571fs) AND Progressive familial intrahepatic cholestasis type 3 | ClinVar | Detail |
NM_000443.4(ABCB4):c.1712del (p.Val571fs) AND Cholestasis, intrahepatic, of pregnancy, 3 | 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
- rs387906527 dbSNP
- Genome
- hg38
- Position
- chr7:87,439,686-87,439,686
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- -
Genome browser