NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile) AND Alexander Disease
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 8, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000192182.1
Allele description
NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile)
Condition(s)
Assertion and evidence details
Last Updated: Mar 19, 2022