NM_002755.4(MAP2K1):c.1146C>T (p.Asn382=) AND RASopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002171416.14
Allele description [Variation Report for NM_002755.4(MAP2K1):c.1146C>T (p.Asn382=)]
NM_002755.4(MAP2K1):c.1146C>T (p.Asn382=)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
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Last Updated: Oct 26, 2024