NM_000426.4(LAMA2):c.9222G>C (p.Lys3074Asn) AND LAMA2-related muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001877534.4
Allele description [Variation Report for NM_000426.4(LAMA2):c.9222G>C (p.Lys3074Asn)]
NM_000426.4(LAMA2):c.9222G>C (p.Lys3074Asn)
Condition(s)
- Name:
- LAMA2-related muscular dystrophy (LAMA2-RD)
- Synonyms:
- Laminin alpha 2-related dystrophy
- Identifiers:
- MONDO: MONDO:0100228; MedGen: C5679788
-
Same Parent, Connectivity for PubChem Compound (Select 6449767) (9)
PubChem Compound
-
Mixture/Component Compounds for PubChem Compound (Select 6604822) (3)
PubChem Compound
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Last Updated: Sep 29, 2024