NM_000426.4(LAMA2):c.6990C>G (p.Val2330=) AND LAMA2-related muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001469292.7
Allele description [Variation Report for NM_000426.4(LAMA2):c.6990C>G (p.Val2330=)]
NM_000426.4(LAMA2):c.6990C>G (p.Val2330=)
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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IL-17C effect on keratinocytes: time course
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Last Updated: Sep 29, 2024