Annotation Detail

Information
Associated Genes
HRAS LRRC56
Associated Variants
HRAS p.Gly12Cys (p.G12C) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 )
HRAS p.Gly12Cys (p.G12C) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 )
Associated Disease
epidermal nevus
Source Database
ClinVar
Description
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) AND Epidermal nevus
ClinVar Allele ID
27652
ClinVar RefSeq Alternation Syntax
NM_005343.4:c.34G>T
ClinVar RefSeq Alternation Syntax
NM_176795.5:c.34G>T
ClinVar RefSeq Alternation Syntax
NM_001130442.3:c.34G>T
ClinVar RefSeq Alternation Syntax
NM_001318054.2:c.-286G>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2012-06-10
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000032851
ClinVar Disease
Epidermal nevus
Observed Origin Sample
somatic
Pubmed
22683711
Pubmed
22499344
Pubmed
18039947
Drugs