NM_000540.3(RYR1):c.7750C>T (p.His2584Tyr) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002582129.3
Allele description [Variation Report for NM_000540.3(RYR1):c.7750C>T (p.His2584Tyr)]
NM_000540.3(RYR1):c.7750C>T (p.His2584Tyr)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
RecName: Full=Meteorin-like protein; AltName: Full=Subfatin; Flags: Precursor
RecName: Full=Meteorin-like protein; AltName: Full=Subfatin; Flags: Precursorgi|81902019|sp|Q8VE43.1|METRL_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024