NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 15, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000157508.4
Allele description [Variation Report for NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys)]
NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys)
Condition(s)
- Name:
- Cafe au lait spots, multiple
- Synonyms:
- Neurofibromatosis type 6
- Identifiers:
- MONDO: MONDO:0007245; MedGen: C1861975; Orphanet: 2678; OMIM: 114030; Human Phenotype Ontology: HP:0007565
- Name:
- Atrial septal defect (ASD)
- Synonyms:
- Interatrial communication; Defect in the atrial septum
- Identifiers:
- MONDO: MONDO:0006664; MedGen: C0018817; Orphanet: 1478; OMIM: PS108800; Human Phenotype Ontology: HP:0001631
Assertion and evidence details
Last Updated: Jul 15, 2024