NM_000540.3(RYR1):c.1561C>T (p.Leu521Phe) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001857999.3
Allele description [Variation Report for NM_000540.3(RYR1):c.1561C>T (p.Leu521Phe)]
NM_000540.3(RYR1):c.1561C>T (p.Leu521Phe)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Mus musculus RIKEN cDNA 0610038F07 gene, mRNA (cDNA clone IMAGE:5698361)
Mus musculus RIKEN cDNA 0610038F07 gene, mRNA (cDNA clone IMAGE:5698361)gi|37589220|gb|BC058955.1|Nucleotide
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Last Updated: Sep 29, 2024