NM_004393.6(DAG1):c.608C>T (p.Thr203Ile) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002008968.2
Allele description [Variation Report for NM_004393.6(DAG1):c.608C>T (p.Thr203Ile)]
NM_004393.6(DAG1):c.608C>T (p.Thr203Ile)
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
-
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023