Annotation Detail
Information
- Associated Genes
- HRAS LRRC56
- Associated Variants
-
HRAS p.Gly12Ser (p.G12S)
(
ENST00000311189.8,
ENST00000397594.7,
ENST00000397596.6,
ENST00000417302.7,
ENST00000451590.5 )
HRAS p.Gly12Ser (p.G12S) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 ) - Associated Disease
- Myopathy, congenital, with excess of muscle spindles
- Source Database
- ClinVar
- Description
- NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Myopathy, congenital, with excess of muscle spindles
- ClinVar Allele ID
- 27641
- ClinVar RefSeq Alternation Syntax
- NM_001130442.3:c.34G>A
- ClinVar RefSeq Alternation Syntax
- NM_176795.5:c.34G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318054.2:c.-286G>A
- ClinVar RefSeq Alternation Syntax
- NM_005343.4:c.34G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013436
- ClinVar Disease
- Myopathy, congenital, with excess of muscle spindles
- Observed Origin Sample
- unknown
- Pubmed
- 17054105
- Pubmed
- 16443854
- Pubmed
- 22683711
- Pubmed
- 18039947
- Pubmed
- 16170316
- Pubmed
- 11150980
- Pubmed
- 17412879
- Pubmed
- 22087699
- Pubmed
- 24129065
Drugs