NM_020533.3(MCOLN1):c.724del (p.Leu242fs) AND Mucolipidosis type IV
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 8, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001385590.5
Allele description [Variation Report for NM_020533.3(MCOLN1):c.724del (p.Leu242fs)]
NM_020533.3(MCOLN1):c.724del (p.Leu242fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024