NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) AND Abnormality of the nervous system
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001814280.4
Allele description [Variation Report for NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)]
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)
Condition(s)
- Name:
- Abnormality of the nervous system
- Synonyms:
- Congenital nervous system disorder
- Identifiers:
- MONDO: MONDO:0002320; MedGen: C0497552; Human Phenotype Ontology: HP:0000707
Assertion and evidence details
Last Updated: Sep 29, 2024