Annotation Detail
Information
- Associated Genes
- HRAS LRRC56
- Associated Variants
-
HRAS p.His27= (p.H27=)
(
ENST00000451590.5,
ENST00000417302.7,
ENST00000397596.6,
ENST00000397594.7,
ENST00000311189.8 )
HRAS p.His27= (p.H27=) ( ENST00000451590.5, ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7 ) - Associated Disease
- Noonan syndrome and Noonan-related syndrome
- Source Database
- ClinVar
- Description
- NM_005343.4(HRAS):c.81T>C (p.His27=) AND Noonan syndrome and Noonan-related syndrome
- ClinVar Allele ID
- 48901
- ClinVar RefSeq Alternation Syntax
- NM_005343.4:c.81T>C
- ClinVar RefSeq Alternation Syntax
- NM_001130442.3:c.81T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318054.2:c.-239T>C
- ClinVar RefSeq Alternation Syntax
- NM_176795.5:c.81T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001813233
- ClinVar Disease
- Noonan syndrome and Noonan-related syndrome
- Observed Origin Sample
- germline
Drugs