NM_017882.3(CLN6):c.396dup (p.Val133fs) AND Abnormality of the nervous system
- Germline classification:
- 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:
- RCV001814358.1
Allele description [Variation Report for NM_017882.3(CLN6):c.396dup (p.Val133fs)]
NM_017882.3(CLN6):c.396dup (p.Val133fs)
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: Dec 24, 2023