NM_000426.4(LAMA2):c.1881_1884del (p.Glu628fs) AND LAMA2-related muscular dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002791926.3
Allele description [Variation Report for NM_000426.4(LAMA2):c.1881_1884del (p.Glu628fs)]
NM_000426.4(LAMA2):c.1881_1884del (p.Glu628fs)
Condition(s)
- Name:
- LAMA2-related muscular dystrophy (LAMA2-RD)
- Synonyms:
- Laminin alpha 2-related dystrophy
- Identifiers:
- MONDO: MONDO:0100228; MedGen: C5679788
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Trmt12 protein [Mus musculus]
Trmt12 protein [Mus musculus]gi|112180678|gb|AAH52533.1|Protein
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extradiol ring-cleavage dioxygenase [Cucumis sativus]
extradiol ring-cleavage dioxygenase [Cucumis sativus]gi|449453205|ref|XP_004144349.1|Protein
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hypothetical protein POPTR_0002s01190g [Populus trichocarpa]
hypothetical protein POPTR_0002s01190g [Populus trichocarpa]gi|566155645|ref|XP_002300648.2||gn _WGS:AARH|POPTR_0002s011901pProtein
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Homologene neighbors for GEO Profiles (Select 103814657) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 103821542) (89)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024