NM_000426.4(LAMA2):c.1884+10T>G AND LAMA2-related muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002170824.6
Allele description [Variation Report for NM_000426.4(LAMA2):c.1884+10T>G]
NM_000426.4(LAMA2):c.1884+10T>G
Condition(s)
- Name:
- LAMA2-related muscular dystrophy (LAMA2-RD)
- Synonyms:
- Laminin alpha 2-related dystrophy
- Identifiers:
- MONDO: MONDO:0100228; MedGen: C5679788
-
Sperm acrosome associated 1 [Homo sapiens]
Sperm acrosome associated 1 [Homo sapiens]gi|20809569|gb|AAH29488.1|Protein
-
uroporphyrinogen decarboxylase isoform 1 [Mus musculus]
uroporphyrinogen decarboxylase isoform 1 [Mus musculus]gi|110347606|ref|NP_033504.2|Protein
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Last Updated: Sep 29, 2024