NM_006876.3(B4GAT1):c.1074G>A (p.Val358=) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002147950.6
Allele description [Variation Report for NM_006876.3(B4GAT1):c.1074G>A (p.Val358=)]
NM_006876.3(B4GAT1):c.1074G>A (p.Val358=)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- Synonyms:
- WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
- Identifiers:
- MONDO: MONDO:0014120; MedGen: C3809042; Orphanet: 899; OMIM: 615287
Assertion and evidence details
Last Updated: Sep 29, 2024