NM_000540.3(RYR1):c.14528_14536del (p.Gly4843_Leu4845del) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001955045.3
Allele description [Variation Report for NM_000540.3(RYR1):c.14528_14536del (p.Gly4843_Leu4845del)]
NM_000540.3(RYR1):c.14528_14536del (p.Gly4843_Leu4845del)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
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Links from species level taxonomic nodes to autonomous proteins for Taxonomy (Select 3029053)SearchProtein
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Last Updated: May 19, 2024