Annotation Detail
Information
- Associated Genes
- HRAS LRRC56
- Associated Variants
-
HRAS p.Gly12Val (p.G12V)
(
ENST00000397594.7,
ENST00000311189.8,
ENST00000397596.6,
ENST00000417302.7,
ENST00000451590.5 )
HRAS p.Gly12Val (p.G12V) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 ) - Associated Disease
- Costello syndrome
- Source Database
- ClinVar
- Description
- NM_005343.4(HRAS):c.35G>T (p.Gly12Val) AND Costello syndrome
- ClinVar Allele ID
- 27639
- ClinVar RefSeq Alternation Syntax
- NM_001318054.2:c.-285G>T
- ClinVar RefSeq Alternation Syntax
- NM_005343.4:c.35G>T
- ClinVar RefSeq Alternation Syntax
- NM_176795.5:c.35G>T
- ClinVar RefSeq Alternation Syntax
- NM_001130442.3:c.35G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013432
- ClinVar Disease
- Costello syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 22499344
- Pubmed
- 6092966
- Pubmed
- 16170316
- Pubmed
- 2999610
- Pubmed
- 7177195
- Pubmed
- 6330729
- Pubmed
- 3537694
- Pubmed
- 17412879
- Pubmed
- 8960317
Drugs