Annotation Detail
Information
- Associated Genes
- PPOX
- Associated Variants
-
PPOX p.Gly232Arg (p.G232R)
(
ENST00000544598.5,
ENST00000462866.5,
ENST00000535223.5,
ENST00000367999.9,
ENST00000352210.9 )
PPOX p.Gly232Arg (p.G232R) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 ) - Associated Disease
- variegate porphyria
- Source Database
- ClinVar
- Description
- NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) AND Variegate porphyria
- ClinVar Allele ID
- 23732
- ClinVar RefSeq Alternation Syntax
- NM_001350131.2:c.208G>C
- ClinVar RefSeq Alternation Syntax
- NM_001365398.1:c.694G>C
- ClinVar RefSeq Alternation Syntax
- NM_001350130.2:c.208G>C
- ClinVar RefSeq Alternation Syntax
- NM_001365401.1:c.208G>C
- ClinVar RefSeq Alternation Syntax
- NM_000309.5:c.694G>C
- ClinVar RefSeq Alternation Syntax
- NM_001350128.2:c.595G>C
- ClinVar RefSeq Alternation Syntax
- NM_001365399.1:c.694G>C
- ClinVar RefSeq Alternation Syntax
- NM_001350129.2:c.286G>C
- ClinVar RefSeq Alternation Syntax
- NM_001365400.1:c.286G>C
- ClinVar RefSeq Alternation Syntax
- NM_001122764.3:c.694G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1996-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009230
- ClinVar Disease
- Variegate porphyria
- Observed Origin Sample
- germline
- Pubmed
- 8852667
Drugs