NM_000426.4(LAMA2):c.6884G>A (p.Arg2295His) AND Congenital muscular dystrophy due to partial LAMA2 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001154186.4
Allele description [Variation Report for NM_000426.4(LAMA2):c.6884G>A (p.Arg2295His)]
NM_000426.4(LAMA2):c.6884G>A (p.Arg2295His)
Condition(s)
- Name:
- Congenital muscular dystrophy due to partial LAMA2 deficiency
- Identifiers:
- MedGen: C1842898
-
hypothetical protein H257_02542 [Aphanomyces astaci]
hypothetical protein H257_02542 [Aphanomyces astaci]gi|698782965|ref|XP_009824526.1||gn _WGS:AYTG|H257_02542T0Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024