Annotation Detail
Information
- Associated Genes
- VHL LOC107303340
- Associated Variants
-
VHL p.Leu188Val (p.L188V)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Leu188Val (p.L188V) ( ENST00000696153.1, ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- Au-Kline syndrome
- Source Database
- ClinVar
- Description
- NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND Au-Kline syndrome
- ClinVar Allele ID
- 17264
- ClinVar RefSeq Alternation Syntax
- NM_000551.4:c.562C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354723.2:c.*116C>G
- ClinVar RefSeq Alternation Syntax
- NM_198156.3:c.439C>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003330076
- ClinVar Disease
- Au-Kline syndrome
- Observed Origin Sample
- germline
Drugs