NM_000391.4(TPP1):c.1266G>C (p.Gln422His) AND Neuronal ceroid lipofuscinosis 2
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- May 18, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000059620.4
Allele description [Variation Report for NM_000391.4(TPP1):c.1266G>C (p.Gln422His)]
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024