NM_000540.3(RYR1):c.4948C>T (p.Leu1650=) AND RYR1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003757962.1
Allele description [Variation Report for NM_000540.3(RYR1):c.4948C>T (p.Leu1650=)]
NM_000540.3(RYR1):c.4948C>T (p.Leu1650=)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Homologene neighbors for GEO Profiles (Select 78961662) (0)
GEO Profiles
-
Gene Links for GEO Profiles (Select 78959557) (1)
Gene
-
MTDH metadherin [Homo sapiens]
MTDH metadherin [Homo sapiens]Gene ID:92140Gene
-
Related DataSets for GEO Profiles (Select 116777443) (1)
GEO DataSets
-
Ruptured intracranial aneurysms
Ruptured intracranial aneurysmsAccession: GDS5186GEO DataSets
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 19, 2024