NM_000540.3(RYR1):c.7835+12C>A AND RYR1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003767651.1
Allele description [Variation Report for NM_000540.3(RYR1):c.7835+12C>A]
NM_000540.3(RYR1):c.7835+12C>A
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Homo sapiens RNA binding fox-1 homolog 1 (RBFOX1), transcript variant 2, mRNA
Homo sapiens RNA binding fox-1 homolog 1 (RBFOX1), transcript variant 2, mRNAgi|1676319630|ref|NM_145892.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024