Annotation Detail

Information
Associated Genes
HRAS LRRC56
Associated Variants
HRAS p.Gly12Val (p.G12V) ( ENST00000397594.7, ENST00000311189.8, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 )
HRAS p.Gly12Val (p.G12V) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 )
Associated Disease
epidermal nevus
Source Database
ClinVar
Description
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) AND Epidermal nevus
ClinVar Allele ID
27639
ClinVar RefSeq Alternation Syntax
NM_001318054.2:c.-285G>T
ClinVar RefSeq Alternation Syntax
NM_005343.4:c.35G>T
ClinVar RefSeq Alternation Syntax
NM_176795.5:c.35G>T
ClinVar RefSeq Alternation Syntax
NM_001130442.3:c.35G>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2012-04-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000032850
ClinVar Disease
Epidermal nevus
Observed Origin Sample
somatic
Pubmed
22499344
Pubmed
6092966
Pubmed
16170316
Pubmed
2999610
Pubmed
7177195
Pubmed
6330729
Pubmed
3537694
Pubmed
17412879
Pubmed
8960317
Drugs