Annotation Detail
Information
- Associated Genes
- PPOX
- Associated Variants
-
PPOX p.Leu67Ter (p.L67*)
(
ENST00000352210.9,
ENST00000462866.5,
ENST00000544598.5,
ENST00000367999.9,
ENST00000535223.5 )
PPOX p.Leu67Ter (p.L67*) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 ) - Associated Disease
- variegate porphyria
- Source Database
- ClinVar
- Description
- NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) AND Variegate porphyria
- ClinVar Allele ID
- 187104
- ClinVar RefSeq Alternation Syntax
- NM_001122764.3:c.199del
- ClinVar RefSeq Alternation Syntax
- NM_001365399.1:c.199del
- ClinVar RefSeq Alternation Syntax
- NM_001350128.2:c.199del
- ClinVar RefSeq Alternation Syntax
- NM_001365401.1:c.-172del
- ClinVar RefSeq Alternation Syntax
- NM_001365398.1:c.199del
- ClinVar RefSeq Alternation Syntax
- NM_001350130.2:c.-320del
- ClinVar RefSeq Alternation Syntax
- NM_001365400.1:c.-113del
- ClinVar RefSeq Alternation Syntax
- NM_001350129.2:c.-229del
- ClinVar RefSeq Alternation Syntax
- NM_001350131.2:c.-206del
- ClinVar RefSeq Alternation Syntax
- NM_000309.5:c.199del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-03-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000169672
- ClinVar Disease
- Variegate porphyria
- Observed Origin Sample
- germline
Drugs