NM_000540.3(RYR1):c.1897C>A (p.Gln633Lys) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002625262.2
Allele description [Variation Report for NM_000540.3(RYR1):c.1897C>A (p.Gln633Lys)]
NM_000540.3(RYR1):c.1897C>A (p.Gln633Lys)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Phylica selaginoides (4)
Nucleotide
-
CR439759 XGC-tailbud Xenopus tropicalis cDNA clone TTbA069b14 3', mRNA sequence
CR439759 XGC-tailbud Xenopus tropicalis cDNA clone TTbA069b14 3', mRNA sequencegi|48965346|gnl|dbEST|23833974|emb| 759.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024