NM_004393.6(DAG1):c.219C>T (p.Val73=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001500510.5
Allele description [Variation Report for NM_004393.6(DAG1):c.219C>T (p.Val73=)]
NM_004393.6(DAG1):c.219C>T (p.Val73=)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2P
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED; Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013440; MedGen: C4511963; Orphanet: 280333; OMIM: 613818
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
- Synonyms:
- WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9
- Identifiers:
- MONDO: MONDO:0014683; MedGen: C4225291; Orphanet: 370997; Orphanet: 899; OMIM: 616538
Assertion and evidence details
Last Updated: May 7, 2024