NM_000540.3(RYR1):c.6989G>A (p.Arg2330His) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003757248.1
Allele description [Variation Report for NM_000540.3(RYR1):c.6989G>A (p.Arg2330His)]
NM_000540.3(RYR1):c.6989G>A (p.Arg2330His)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Mus musculus IKAROS family zinc finger 1 (Ikzf1), transcript variant 2, mRNA
Mus musculus IKAROS family zinc finger 1 (Ikzf1), transcript variant 2, mRNAgi|71037384|ref|NM_009578.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024