Annotation Detail
Information
- Associated Genes
- PPOX
- Associated Variants
-
PPOX p.Ile12Thr (p.I12T)
(
ENST00000367999.9,
ENST00000535223.5,
ENST00000462866.5,
ENST00000544598.5,
ENST00000352210.9 )
PPOX p.Ile12Thr (p.I12T) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 ) - Associated Disease
- Variegate porphyria, childhood-onset
- Source Database
- ClinVar
- Description
- NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr) AND Variegate porphyria, childhood-onset
- ClinVar Allele ID
- 23742
- ClinVar RefSeq Alternation Syntax
- NM_001365399.1:c.35T>C
- ClinVar RefSeq Alternation Syntax
- NM_001350130.2:c.-484T>C
- ClinVar RefSeq Alternation Syntax
- NM_001365400.1:c.-277T>C
- ClinVar RefSeq Alternation Syntax
- NM_001350128.2:c.35T>C
- ClinVar RefSeq Alternation Syntax
- NM_001365398.1:c.35T>C
- ClinVar RefSeq Alternation Syntax
- NM_001365401.1:c.-336T>C
- ClinVar RefSeq Alternation Syntax
- NM_000309.5:c.35T>C
- ClinVar RefSeq Alternation Syntax
- NM_001350129.2:c.-393T>C
- ClinVar RefSeq Alternation Syntax
- NM_001350131.2:c.-370T>C
- ClinVar RefSeq Alternation Syntax
- NM_001122764.3:c.35T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003324495
- ClinVar Disease
- Variegate porphyria, childhood-onset
- Observed Origin Sample
- germline
- Pubmed
- 3319294
- Pubmed
- 10486317
- Pubmed
- 11286631
Drugs