NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) AND Neuronal ceroid lipofuscinosis 2
- Germline classification:
- Likely pathogenic (3 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000059628.5
Allele description [Variation Report for NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)]
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024