NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) AND Ceroid lipofuscinosis, neuronal, 6A
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 30, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000761549.2
Allele description [Variation Report for NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)]
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)
Condition(s)
Assertion and evidence details
Last Updated: Jan 6, 2024