NM_000426.4(LAMA2):c.1809A>G (p.Thr603=) AND LAMA2-related muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001401985.7
Allele description [Variation Report for NM_000426.4(LAMA2):c.1809A>G (p.Thr603=)]
NM_000426.4(LAMA2):c.1809A>G (p.Thr603=)
Condition(s)
- Name:
- LAMA2-related muscular dystrophy (LAMA2-RD)
- Synonyms:
- Laminin alpha 2-related dystrophy
- Identifiers:
- MONDO: MONDO:0100228; MedGen: C5679788
-
Mus musculus USP6 N-terminal like (Usp6nl), transcript variant 2, mRNA
Mus musculus USP6 N-terminal like (Usp6nl), transcript variant 2, mRNAgi|123173783|ref|NM_001080548.1|Nucleotide
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olfactory receptor 1L4 [Homo sapiens]
olfactory receptor 1L4 [Homo sapiens]gi|52546687|ref|NP_001005235.1|Protein
-
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024