NM_005633.4(SOS1):c.1645A>G (p.Thr549Ala) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001172277.1
Allele description [Variation Report for NM_005633.4(SOS1):c.1645A>G (p.Thr549Ala)]
NM_005633.4(SOS1):c.1645A>G (p.Thr549Ala)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
Assertion and evidence details
Last Updated: Jun 9, 2022