NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000414976.2
Allele description [Variation Report for NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)]
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)
Condition(s)
- Name:
- Short stature
- Identifiers:
- MedGen: C0349588; Human Phenotype Ontology: HP:0004322
- Name:
- Delayed gross motor development
- Identifiers:
- MedGen: C1837658; Human Phenotype Ontology: HP:0002194
- Name:
- Congenital contracture
- Synonyms:
- Congenital contractures
- Identifiers:
- MONDO: MONDO:0022823; MedGen: C0332878; Human Phenotype Ontology: HP:0002803
- Name:
- Proximal amyotrophy
- Identifiers:
- MedGen: C1850794; Human Phenotype Ontology: HP:0007126
-
PREDICTED: E3 ubiquitin-protein ligase CBL, partial [Eurypyga helias]
PREDICTED: E3 ubiquitin-protein ligase CBL, partial [Eurypyga helias]gi|704248803|ref|XP_010147213.1|Protein
-
Cish [Arvicola amphibius]
Cish [Arvicola amphibius]Gene ID:119809635Gene
-
LOC110321330 [Mus pahari]
LOC110321330 [Mus pahari]Gene ID:110321330Gene
-
CBL [Eurypyga helias]
CBL [Eurypyga helias]Gene ID:104507582Gene
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Last Updated: Sep 29, 2024