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
-
DGKA diacylglycerol kinase alpha [Homo sapiens]
DGKA diacylglycerol kinase alpha [Homo sapiens]Gene ID:1606Gene
-
Rpn8 Regulatory particle non-ATPase 8 [Drosophila melanogaster]
Rpn8 Regulatory particle non-ATPase 8 [Drosophila melanogaster]Gene ID:37894Gene
-
HSPH1 heat shock protein family H (Hsp110) member 1 [Homo sapiens]
HSPH1 heat shock protein family H (Hsp110) member 1 [Homo sapiens]Gene ID:10808Gene
-
RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 [Homo sapiens]
RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 [Homo sapiens]Gene ID:22930Gene
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Last Updated: Oct 5, 2013