NM_000426.4(LAMA2):c.1798G>T (p.Gly600Ter) AND LAMA2-related muscular dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001939431.4
Allele description [Variation Report for NM_000426.4(LAMA2):c.1798G>T (p.Gly600Ter)]
NM_000426.4(LAMA2):c.1798G>T (p.Gly600Ter)
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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Profile neighbors for GEO Profiles (Select 103823980) (88)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 103837112) (20)
GEO Profiles
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Taxonomy Links for Nucleotide (Select 83086151) (1)
Taxonomy
-
RDM1 RAD52 motif containing 1 [Homo sapiens]
RDM1 RAD52 motif containing 1 [Homo sapiens]Gene ID:201299Gene
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Gene Links for GEO Profiles (Select 103830108) (1)
Gene
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Last Updated: Sep 29, 2024