NM_006876.3(B4GAT1):c.1152C>T (p.Pro384=) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 14, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001474698.14
Allele description [Variation Report for NM_006876.3(B4GAT1):c.1152C>T (p.Pro384=)]
NM_006876.3(B4GAT1):c.1152C>T (p.Pro384=)
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
-
TLL2 protein, partial [Homo sapiens]
TLL2 protein, partial [Homo sapiens]gi|33878312|gb|AAH13871.1|Protein
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Last Updated: Oct 13, 2024