NM_006493.4(CLN5):c.174-1G>A AND Abnormality of metabolism/homeostasis
- 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:
- RCV001814483.1
Allele description [Variation Report for NM_006493.4(CLN5):c.174-1G>A]
NM_006493.4(CLN5):c.174-1G>A
Condition(s)
- Name:
- Abnormality of metabolism/homeostasis
- Identifiers:
- MedGen: C4021768; Human Phenotype Ontology: HP:0001939
Assertion and evidence details
Last Updated: Dec 24, 2023