NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) AND Adult polyglucosan body disease
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Sep 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001147052.9
Allele description [Variation Report for NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)]
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
Condition(s)
Assertion and evidence details
Last Updated: Aug 25, 2024