Annotation Detail
Information
- Associated Genes
- VHL LOC107303340
- Associated Variants
-
VHL p.Thr124Ile (p.T124I)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Thr124Ile (p.T124I) ( 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.371C>T (p.Thr124Ile) AND Von Hippel-Lindau syndrome
- ClinVar Allele ID
- 45563
- ClinVar RefSeq Alternation Syntax
- NM_001354723.2:c.*18-3243C>T
- ClinVar RefSeq Alternation Syntax
- NM_198156.3:c.341-3243C>T
- ClinVar RefSeq Alternation Syntax
- NM_000551.4:c.371C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2011-08-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030585
- ClinVar Disease
- Von Hippel-Lindau syndrome
- Observed Origin Sample
- germline
Drugs