Annotation Detail
Information
- Associated Genes
- FECH
- Associated Variants
-
FECH p.Val368Gly (p.V368G)
(
ENST00000262093.11,
ENST00000382873.8,
ENST00000652755.1 )
FECH p.Val368Gly (p.V368G) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 ) - Associated Disease
- Protoporphyria, erythropoietic, 1
- Source Database
- ClinVar
- Description
- NM_000140.5(FECH):c.1085T>G (p.Val362Gly) AND Protoporphyria, erythropoietic, 1
- ClinVar Allele ID
- 15593
- ClinVar RefSeq Alternation Syntax
- NM_001371095.1:c.869T>G
- ClinVar RefSeq Alternation Syntax
- NM_001374778.1:c.1078-521T>G
- ClinVar RefSeq Alternation Syntax
- NM_001012515.4:c.1103T>G
- ClinVar RefSeq Alternation Syntax
- NM_000140.5:c.1085T>G
- ClinVar RefSeq Alternation Syntax
- NM_001371094.1:c.986T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1994-06-04
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000584
- ClinVar Disease
- Protoporphyria, erythropoietic, 1
- Observed Origin Sample
- germline
- Pubmed
- 7910885
Drugs