HRAS HRas proto-oncogene, GTPase

Gene info

Synonyms

None

Previous symbol

HRAS1

External ID

HGNC: 5173
Entrez Gene: 3265
Ensembl: ENSG00000174775
UCSC: uc010qvx.3
OMIM: 190020
UniProtKB: P01112

Disease info

Disease

CHD Phenotype

  • Pulmonary stenosis
  • Bicuspid aortic valve
  • Atrial septal defect
  • Mitral stenosis

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Mouse with homozygous single-base mutation has CHD

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for HRAS: BED file

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Selected References

  1. Şimşek-Kiper, P., Alanay, Y., Gülhan, B., Lissewski, C., Türkyılmaz, D., Alehan, D., … Boduroğlu, K. (2012). Clinical and molecular analysis of RASopathies in a group of Turkish patients. Clinical Genetics, 83(2), 181–186. DOI:10.1111/j.1399-0004.2012.01875.x PMID:22420426
  2. Kerr, B. (2005). Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. Journal of Medical Genetics, 43(5), 401–405. DOI:10.1136/jmg.2005.040352 PMID:16443854
  3. Gripp, K. W., Lin, A. E., Stabley, D. L., Nicholson, L., Scott, C. I., Doyle, D., … Sol-Church, K. (2005). HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation. American Journal of Medical Genetics Part A, 140A(1), 1–7. DOI:10.1002/ajmg.a.31047 PMID:16329078