NM_152490.5(B3GALNT2):c.279A>C (p.Ile93=) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000878861.7
Allele description
NM_152490.5(B3GALNT2):c.279A>C (p.Ile93=)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 (MDDGA11)
- Synonyms:
- WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GALNT2-RELATED; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
- Identifiers:
- MONDO: MONDO:0014071; MedGen: C3554638; Orphanet: 588; Orphanet: 899; OMIM: 615181
-
DP96R [African swine fever virus]
DP96R [African swine fever virus]gi|1584727470|gb|QBH90830.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 10, 2024