NM_002294.3(LAMP2):c.907A>G (p.Met303Val) AND Danon disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001218079.5
Allele description [Variation Report for NM_002294.3(LAMP2):c.907A>G (p.Met303Val)]
NM_002294.3(LAMP2):c.907A>G (p.Met303Val)
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
-
Rattus norvegicus Cd48 molecule (Cd48), mRNA
Rattus norvegicus Cd48 molecule (Cd48), mRNAgi|20806146|ref|NM_139103.1|Nucleotide
-
prostaglandin E synthase 2, isoform CRA_a [Homo sapiens]
prostaglandin E synthase 2, isoform CRA_a [Homo sapiens]gi|119608147|gb|EAW87741.1||gnl|WGS |hCP1752436Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024