NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys) AND Neuronal ceroid lipofuscinosis 10
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2006
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000019135.26
Allele description [Variation Report for NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)]
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)
Condition(s)
Assertion and evidence details
Last Updated: Jun 24, 2022