NM_002294.3(LAMP2):c.685A>G (p.Asn229Asp) AND Danon disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003071033.2
Allele description [Variation Report for NM_002294.3(LAMP2):c.685A>G (p.Asn229Asp)]
NM_002294.3(LAMP2):c.685A>G (p.Asn229Asp)
Condition(s)
- Name:
- Danon disease
- Synonyms:
- PSEUDOGLYCOGENOSIS II; GSD IIb; LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010281; MedGen: C0878677; Orphanet: 34587; OMIM: 300257
Assertion and evidence details
Last Updated: Feb 14, 2024