NM_007373.4(SHOC2):c.425T>G (p.Val142Gly) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003655210.2
Allele description [Variation Report for NM_007373.4(SHOC2):c.425T>G (p.Val142Gly)]
NM_007373.4(SHOC2):c.425T>G (p.Val142Gly)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
inactive serine protease PAMR1 isoform a precursor [Homo sapiens]
inactive serine protease PAMR1 isoform a precursor [Homo sapiens]gi|50659098|ref|NP_056245.2|Protein
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Last Updated: Sep 29, 2024