NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) AND Acid alpha-glucosidase, allele 4
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 1996
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000004245.1
Allele description
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
Condition(s)
- Name:
- Acid alpha-glucosidase, allele 4
- Identifiers:
Assertion and evidence details
Last Updated: Jun 18, 2022