Annotation Detail
Information
- Associated Genes
- VHL LOC107303340
- Associated Variants
-
VHL p.Val130Leu (p.V130L)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Val130Leu (p.V130L) ( 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.388G>C (p.Val130Leu) AND Chuvash polycythemia
- ClinVar Allele ID
- 17268
- ClinVar RefSeq Alternation Syntax
- NM_001354723.2:c.*18-3226G>C
- ClinVar RefSeq Alternation Syntax
- NM_000551.4:c.388G>C
- ClinVar RefSeq Alternation Syntax
- NM_198156.3:c.341-3226G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002317
- ClinVar Disease
- Chuvash polycythemia
- Observed Origin Sample
- germline
- Pubmed
- 12844285
Drugs