Annotation Detail
Information
- Associated Genes
- PPOX
- Associated Variants
-
PPOX p.His20Pro (p.H20P)
(
ENST00000352210.9,
ENST00000367999.9,
ENST00000535223.5,
ENST00000462866.5,
ENST00000544598.5 )
PPOX p.His20Pro (p.H20P) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 ) - Associated Disease
- variegate porphyria
- Source Database
- ClinVar
- Description
- NM_001122764.3(PPOX):c.59A>C (p.His20Pro) AND Variegate porphyria
- ClinVar Allele ID
- 23734
- ClinVar RefSeq Alternation Syntax
- NM_001365399.1:c.59A>C
- ClinVar RefSeq Alternation Syntax
- NM_001350130.2:c.-460A>C
- ClinVar RefSeq Alternation Syntax
- NM_001350129.2:c.-369A>C
- ClinVar RefSeq Alternation Syntax
- NM_001350131.2:c.-346A>C
- ClinVar RefSeq Alternation Syntax
- NM_001365401.1:c.-312A>C
- ClinVar RefSeq Alternation Syntax
- NM_001122764.3:c.59A>C
- ClinVar RefSeq Alternation Syntax
- NM_000309.5:c.59A>C
- ClinVar RefSeq Alternation Syntax
- NM_001350128.2:c.59A>C
- ClinVar RefSeq Alternation Syntax
- NM_001365400.1:c.-253A>C
- ClinVar RefSeq Alternation Syntax
- NM_001365398.1:c.59A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1996-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009232
- ClinVar Disease
- Variegate porphyria
- Observed Origin Sample
- germline
- Pubmed
- 8817334
Drugs