Annotation Detail
Information
- Associated Genes
- CASP10
- Associated Variants
-
CASP10 p.Val410Ile (p.V410I)
(
ENST00000272879.9,
ENST00000286186.11,
ENST00000313728.12,
ENST00000346817.10,
ENST00000448480.1,
ENST00000696199.1 )
CASP10 p.Val410Ile (p.V410I) ( ENST00000272879.9, ENST00000286186.11, ENST00000313728.12, ENST00000346817.10, ENST00000448480.1, ENST00000696199.1 ) - Associated Disease
- autoimmune lymphoproliferative syndrome type 2A
- Source Database
- ClinVar
- Description
- NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) AND Autoimmune lymphoproliferative syndrome type 2A
- ClinVar Allele ID
- 34579
- ClinVar RefSeq Alternation Syntax
- NM_001230.5:c.1099G>A
- ClinVar RefSeq Alternation Syntax
- NM_001206542.2:c.1099G>A
- ClinVar RefSeq Alternation Syntax
- NM_032976.4:c.*314G>A
- ClinVar RefSeq Alternation Syntax
- NM_032977.4:c.1228G>A
- ClinVar RefSeq Alternation Syntax
- NM_001206524.2:c.1027G>A
- ClinVar RefSeq Alternation Syntax
- NM_032974.5:c.1228G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000279231
- ClinVar Disease
- Autoimmune lymphoproliferative syndrome type 2A
- Observed Origin Sample
- germline
Drugs