NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu) AND RYR1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000868676.8
Allele description [Variation Report for NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu)]
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
ITPKA inositol-trisphosphate 3-kinase A [Bos taurus]
ITPKA inositol-trisphosphate 3-kinase A [Bos taurus]Gene ID:615813Gene
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024