Annotation Detail
Information
- Associated Genes
- HRAS LRRC56
- Associated Variants
-
HRAS p.Gly13Asp (p.G13D)
(
ENST00000311189.8,
ENST00000397594.7,
ENST00000397596.6,
ENST00000417302.7,
ENST00000451590.5 )
HRAS p.Gly13Asp (p.G13D) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 ) - Associated Disease
- Costello syndrome
- Source Database
- ClinVar
- Description
- NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND Costello syndrome
- ClinVar Allele ID
- 27643
- ClinVar RefSeq Alternation Syntax
- NM_176795.5:c.38G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130442.3:c.38G>A
- ClinVar RefSeq Alternation Syntax
- NM_005343.4:c.38G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318054.2:c.-282G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013438
- ClinVar Disease
- Costello syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
- Pubmed
- 16170316
Drugs