NM_000540.3(RYR1):c.11920G>C (p.Gly3974Arg) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000691455.2
Allele description [Variation Report for NM_000540.3(RYR1):c.11920G>C (p.Gly3974Arg)]
NM_000540.3(RYR1):c.11920G>C (p.Gly3974Arg)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Homo sapiens hypothetical protein FLJ14566 (FLJ14566), mRNA
Homo sapiens hypothetical protein FLJ14566 (FLJ14566), mRNAgi|14249489|ref|NM_032806.1|Nucleotide
-
Homo sapiens zinc finger protein 620 (ZNF620), mRNA
Homo sapiens zinc finger protein 620 (ZNF620), mRNAgi|52353238|ref|NM_175888.1|Nucleotide
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Last Updated: Sep 29, 2024