NM_000540.3(RYR1):c.54G>A (p.Glu18=) AND RYR1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001475428.6
Allele description [Variation Report for NM_000540.3(RYR1):c.54G>A (p.Glu18=)]
NM_000540.3(RYR1):c.54G>A (p.Glu18=)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Phosphoribosylpyrophosphate Synthetase Superactivity - GeneReviews®
Phosphoribosylpyrophosphate Synthetase Superactivity - GeneReviews®
-
Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) [Mus musculus]
Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) [Mus musculus]gi|12805277|gb|AAH02103.1|Protein
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See more...Assertion and evidence details
Last Updated: May 19, 2024