NM_000426.4(LAMA2):c.1884+16C>T AND LAMA2-related muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003737453.2
Allele description [Variation Report for NM_000426.4(LAMA2):c.1884+16C>T]
NM_000426.4(LAMA2):c.1884+16C>T
Condition(s)
- Name:
- LAMA2-related muscular dystrophy (LAMA2-RD)
- Synonyms:
- Laminin alpha 2-related dystrophy
- Identifiers:
- MONDO: MONDO:0100228; MedGen: C5679788
-
Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 1, mRNA
Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 1, mRNAgi|1959221283|ref|NM_014688.5|Nucleotide
-
Conserved Domain Links for Protein (Select 3850958) (1)
Conserved Domains
-
MULTISPECIES: hypothetical protein [Limosilactobacillus]
MULTISPECIES: hypothetical protein [Limosilactobacillus]gi|2438653840|ref|WP_271901744.1|Protein
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Last Updated: Sep 29, 2024