Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Trp88Ser (p.W88S)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Trp88Ser (p.W88S) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- Von Hippel-Lindau syndrome
- Source Database
- ClinVar
- Description
- NM_000551.4(VHL):c.263G>C (p.Trp88Ser) AND Von Hippel-Lindau syndrome
- ClinVar Allele ID
- 17259
- ClinVar RefSeq Alternation Syntax
- NM_001354723.2:c.263G>C
- ClinVar RefSeq Alternation Syntax
- NM_000551.4:c.263G>C
- ClinVar RefSeq Alternation Syntax
- NM_198156.3:c.263G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1995-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002306
- ClinVar Disease
- Von Hippel-Lindau syndrome
- Observed Origin Sample
- somatic
- Observed Origin Sample
- unknown
- Pubmed
- 8634692
- Pubmed
- 8069849
- Pubmed
- 7784063
Drugs