Annotation Detail
Information
- Associated Genes
- HRAS LRRC56
- Associated Variants
-
HRAS p.Gly12Glu (p.G12E)
(
ENST00000451590.5,
ENST00000311189.8,
ENST00000397596.6,
ENST00000417302.7,
ENST00000397594.7 )
HRAS p.Gly12Glu (p.G12E) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 ) - Associated Disease
- Costello syndrome
- Source Database
- ClinVar
- Description
- NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) AND Costello syndrome
- ClinVar Allele ID
- 174805
- ClinVar RefSeq Alternation Syntax
- NM_005343.4:c.35_36delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001130442.3:c.35_36delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001318054.2:c.-285_-284delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_176795.5:c.35_36delinsAA
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2013-08-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000150836
- ClinVar Disease
- Costello syndrome
- Observed Origin Sample
- germline
Drugs