NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg) AND Distal arthrogryposis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626709.2
Allele description [Variation Report for NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg)]
NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg)
Condition(s)
- Name:
- Distal arthrogryposis
- Identifiers:
- MONDO: MONDO:0019942; MedGen: C0265213; OMIM: PS108120; Human Phenotype Ontology: HP:0005684
Assertion and evidence details
Last Updated: Dec 17, 2022