Annotation Detail
Information
- Associated Genes
- HRAS LRRC56
- Associated Variants
-
HRAS p.Gly12Ala (p.G12A)
(
ENST00000397596.6,
ENST00000311189.8,
ENST00000397594.7,
ENST00000417302.7,
ENST00000451590.5 )
HRAS p.Gly12Ala (p.G12A) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 ) - Associated Disease
- epidermal nevus Malignant tumor of urinary bladder Thyroid cancer, nonmedullary, 2 linear nevus sebaceous syndrome Costello syndrome large congenital melanocytic nevus
- Source Database
- ClinVar
- Description
- NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND multiple conditions
- ClinVar Allele ID
- 27642
- ClinVar RefSeq Alternation Syntax
- NM_005343.4:c.35G>C
- ClinVar RefSeq Alternation Syntax
- NM_001130442.3:c.35G>C
- ClinVar RefSeq Alternation Syntax
- NM_176795.5:c.35G>C
- ClinVar RefSeq Alternation Syntax
- NM_001318054.2:c.-285G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000762848
- ClinVar Disease
- Linear nevus sebaceous syndrome
- ClinVar Disease
- Malignant tumor of urinary bladder
- ClinVar Disease
- Thyroid cancer, nonmedullary, 2
- ClinVar Disease
- Large congenital melanocytic nevus
- ClinVar Disease
- Costello syndrome
- ClinVar Disease
- Epidermal nevus
- Observed Origin Sample
- unknown
Drugs