NM_006493.4(CLN5):c.1026A>G (p.Thr342=) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002332798.1
Allele description [Variation Report for NM_006493.4(CLN5):c.1026A>G (p.Thr342=)]
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Feb 20, 2024