NM_000426.4(LAMA2):c.3576G>A (p.Gln1192=) AND LAMA2-related muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000979767.9
Allele description [Variation Report for NM_000426.4(LAMA2):c.3576G>A (p.Gln1192=)]
NM_000426.4(LAMA2):c.3576G>A (p.Gln1192=)
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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Protein kinase superfamily protein [Arabidopsis thaliana]
Protein kinase superfamily protein [Arabidopsis thaliana]gi|1063694725|ref|NP_001320523.1|Protein
-
Trichinella spiralis (T1): isolate ISS3
Trichinella spiralis (T1): isolate ISS3biosample
-
Cytochrome b561/ferric reductase transmembrane with DOMON related domain-contain...
Cytochrome b561/ferric reductase transmembrane with DOMON related domain-containing protein [Arabidopsis thaliana]gi|15231624|ref|NP_191466.1|Protein
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SNARE associated Golgi protein family [Arabidopsis thaliana]
SNARE associated Golgi protein family [Arabidopsis thaliana]gi|30685958|ref|NP_194016.2|Protein
-
NT5M [Pteronotus mesoamericanus]
NT5M [Pteronotus mesoamericanus]Gene ID:129068746Gene
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Last Updated: Sep 29, 2024