NM_170707.4(LMNA):c.851T>C (p.Leu284Pro) AND Congenital muscular dystrophy due to LMNA mutation
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002250618.1
Allele description [Variation Report for NM_170707.4(LMNA):c.851T>C (p.Leu284Pro)]
NM_170707.4(LMNA):c.851T>C (p.Leu284Pro)
Condition(s)
-
Mus musculus proteolipid protein (myelin) 1 (Plp1), transcript variant 4, mRNA
Mus musculus proteolipid protein (myelin) 1 (Plp1), transcript variant 4, mRNAgi|1315690801|ref|NM_001359117.1|Nucleotide
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Last Updated: Sep 29, 2024