NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) AND SGSH-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003894791.2
Allele description [Variation Report for NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)]
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
Condition(s)
- Name:
- SGSH-related disorder
- Synonyms:
- SGSH-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Oct 20, 2024