Annotation Detail
Information
- Associated Genes
- VHL LOC107303340
- Associated Variants
-
VHL p.Arg200Trp (p.R200W)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Arg200Trp (p.R200W) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- Chuvash polycythemia
- Source Database
- ClinVar
- Description
- NM_000551.4(VHL):c.598C>T (p.Arg200Trp) AND Chuvash polycythemia
- ClinVar Allele ID
- 17271
- ClinVar RefSeq Alternation Syntax
- NM_198156.3:c.475C>T
- ClinVar RefSeq Alternation Syntax
- NM_000551.4:c.598C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354723.2:c.*152C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-03-23
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002320
- ClinVar Disease
- Chuvash polycythemia
- Observed Origin Sample
- germline
- Pubmed
- 12702509
- Pubmed
- 16210343
- Pubmed
- 12415268
- Pubmed
- 11987242
- Pubmed
- 14604959
- Pubmed
- 14726398
- Pubmed
- 9399847
- Pubmed
- 15642664
- Pubmed
- 12844285
- Pubmed
- 21685897
- Pubmed
- 10364675
- Pubmed
- 23403324
Drugs