NM_004006.3(DMD):c.1323A>G (p.Lys441=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 29, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001832714.1
Allele description [Variation Report for NM_004006.3(DMD):c.1323A>G (p.Lys441=)]
NM_004006.3(DMD):c.1323A>G (p.Lys441=)
Condition(s)
- Name:
- Becker muscular dystrophy (BMD)
- Synonyms:
- Benign pseudohypertrophic muscular dystrophy; Becker's muscular dystrophy; Muscular dystrophy pseudohypertrophic progressive, Becker type
- Identifiers:
- MONDO: MONDO:0010311; MedGen: C0917713; Orphanet: 98895; OMIM: 300376
- Name:
- Duchenne muscular dystrophy (DMD)
- Synonyms:
- Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
- Identifiers:
- MONDO: MONDO:0010679; MedGen: C0013264; Orphanet: 98896; OMIM: 310200
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
- Name:
- Dystrophin deficiency
- Identifiers:
-
PREDICTED: Homo sapiens matrix metallopeptidase 23B (MMP23B), transcript variant...
PREDICTED: Homo sapiens matrix metallopeptidase 23B (MMP23B), transcript variant X2, mRNAgi|2217271767|ref|XM_047432838.1|Nucleotide
-
Gm14917 AND (alive[prop]) (2)
Gene
-
LOC120466886 [Pimephales promelas]
LOC120466886 [Pimephales promelas]Gene ID:120466886Gene
-
PDHB [Phyllostomus discolor]
PDHB [Phyllostomus discolor]Gene ID:114501448Gene
-
GLUL [Sturnus vulgaris]
GLUL [Sturnus vulgaris]Gene ID:106852282Gene
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Last Updated: Sep 29, 2024