NM_000540.3(RYR1):c.5533G>C (p.Val1845Leu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002541922.2
Allele description [Variation Report for NM_000540.3(RYR1):c.5533G>C (p.Val1845Leu)]
NM_000540.3(RYR1):c.5533G>C (p.Val1845Leu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
engulfment and cell motility protein 3 [Mus musculus]
engulfment and cell motility protein 3 [Mus musculus]gi|255683297|ref|NP_766348.3|Protein
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Last Updated: May 19, 2024