NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) AND RYR1-related disorder
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000800203.10
Allele description [Variation Report for NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)]
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
zinc finger matrin-type protein 2 [Homo sapiens]
zinc finger matrin-type protein 2 [Homo sapiens]gi|21389511|ref|NP_653324.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024