NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter) AND Mucopolysaccharidosis, MPS-I-H/S
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 30, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001263616.4
Allele description [Variation Report for NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter)]
NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024