NM_002294.3(LAMP2):c.556+14A>G AND Danon disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002027673.6
Allele description [Variation Report for NM_002294.3(LAMP2):c.556+14A>G]
NM_002294.3(LAMP2):c.556+14A>G
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
-
603494 (1)
OMIM
-
RecName: Full=Mitogen-activated protein kinase kinase kinase 7; AltName: Full=Tr...
RecName: Full=Mitogen-activated protein kinase kinase kinase 7; AltName: Full=Transforming growth factor-beta-activated kinase 1; Short=TGF-beta-activated kinase 1gi|12643557|sp|O43318.1|M3K7_HUMANProtein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024