NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 21, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000415075.2
Allele description [Variation Report for NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)]
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)
Condition(s)
- Name:
- Hyperactivity
- Identifiers:
- MedGen: C0424295; Human Phenotype Ontology: HP:0000752
- Name:
- Febrile seizure (within the age range of 3 months to 6 years)
- Synonyms:
- Febrile seizures; febrile convulsion
- Identifiers:
- MedGen: C0009952; Human Phenotype Ontology: HP:0002373
- Name:
- Visual loss
- Synonyms:
- Abnormal vision
- Identifiers:
- MedGen: C3665386; Human Phenotype Ontology: HP:0000572
- Name:
- Cafe-au-lait spot
- Synonyms:
- Café au Lait; Café-au-lait spot
- Identifiers:
- MedGen: C0221263; Human Phenotype Ontology: HP:0000957
- Name:
- Strabismus
- Identifiers:
- MONDO: MONDO:0003432; MedGen: C0038379; Human Phenotype Ontology: HP:0000486
- Name:
- Abnormality of vision
- Identifiers:
- MedGen: C4025846; Human Phenotype Ontology: HP:0000504
- Name:
- Abnormal electroretinogram
- Identifiers:
- MedGen: C0476397; Human Phenotype Ontology: HP:0000512
- Name:
- Abnormal macular morphology
- Identifiers:
- MedGen: C4520679; Human Phenotype Ontology: HP:0001103
- Name:
- Abnormality of macular pigmentation
- Identifiers:
- MedGen: C4024756; Human Phenotype Ontology: HP:0008002
- Name:
- EEG with generalized slow activity
- Identifiers:
- MedGen: C4021217; Human Phenotype Ontology: HP:0010845
Assertion and evidence details
Last Updated: Jun 9, 2024