NM_000426.4(LAMA2):c.7262A>G (p.Lys2421Arg) AND LAMA2-related muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001205241.7
Allele description [Variation Report for NM_000426.4(LAMA2):c.7262A>G (p.Lys2421Arg)]
NM_000426.4(LAMA2):c.7262A>G (p.Lys2421Arg)
Condition(s)
- Name:
- LAMA2-related muscular dystrophy (LAMA2-RD)
- Synonyms:
- Laminin alpha 2-related dystrophy
- Identifiers:
- MONDO: MONDO:0100228; MedGen: C5679788
-
Mus musculus RIKEN cDNA 1110005A23 gene, mRNA (cDNA clone IMAGE:30550736), with ...
Mus musculus RIKEN cDNA 1110005A23 gene, mRNA (cDNA clone IMAGE:30550736), with apparent retained introngi|62948050|gb|BC094393.1|Nucleotide
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Last Updated: Feb 20, 2024