NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 14, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000185923.2
Allele description
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)
Condition(s)
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Oct 8, 2021