NM_024301.5(FKRP):c.938G>A (p.Trp313Ter) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003461576.1
Allele description [Variation Report for NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)]
NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
- Identifiers:
- MONDO: MONDO:0013157; MedGen: C3150413; Orphanet: 588; Orphanet: 899; OMIM: 613153
-
LOC4349141 [Oryza sativa Japonica Group]
LOC4349141 [Oryza sativa Japonica Group]Gene ID:4349141Gene
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Last Updated: Dec 30, 2023