NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 24, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000224603.2
Allele description [Variation Report for NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)]
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024