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 )
Source Database
ClinVar
Description
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) AND Cardiovascular phenotype
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
2023-07-25
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV004018622
Observed Origin Sample
germline
Drugs