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
Costello syndrome
Source Database
ClinVar
Description
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Costello syndrome
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
2017-04-03
Clinical Significance Review Status
reviewed by expert panel
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000013435
ClinVar Disease
Costello syndrome
Observed Origin Sample
germline
Observed Origin Sample
de novo
Observed Origin Sample
unknown
Pubmed
17054105
Pubmed
16443854
Pubmed
22683711
Pubmed
18039947
Pubmed
16170316
Pubmed
11150980
Pubmed
17412879
Pubmed
22087699
Pubmed
24129065
Drugs