PTPN11:c.1530G>C (p.Gln510His) AND Rasopathy
- Germline classification:
- conflicting data from submitters (2 submissions)
- Last evaluated:
- Mar 1, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000033555.3
Allele description
PTPN11:c.1530G>C (p.Gln510His)
Condition(s)
- Name:
- Rasopathy
- Synonyms:
- rasopathies; rasopathy
- Identifiers:
- MedGen: CN166718
Assertion and evidence details
Last Updated: Oct 5, 2013