NM_000540.3(RYR1):c.1909A>G (p.Ile637Val) AND RYR1-related disorder
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001084702.10
Allele description [Variation Report for NM_000540.3(RYR1):c.1909A>G (p.Ile637Val)]
NM_000540.3(RYR1):c.1909A>G (p.Ile637Val)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Homo sapiens pantothenate kinase 1 (PANK1), transcript variant beta, mRNA
Homo sapiens pantothenate kinase 1 (PANK1), transcript variant beta, mRNAgi|1677537926|ref|NM_148978.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024