NM_001127671.2(LIFR):c.1789C>G (p.Arg597Gly) AND Stuve-Wiedemann syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001151853.4
Allele description [Variation Report for NM_001127671.2(LIFR):c.1789C>G (p.Arg597Gly)]
NM_001127671.2(LIFR):c.1789C>G (p.Arg597Gly)
Condition(s)
- Name:
- Stuve-Wiedemann syndrome
- Synonyms:
- Schwartz-Jampel syndrome type 2; Schwartz-Jampel syndrome neonatal; Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0031280; MedGen: C0796176; Orphanet: 3206; OMIM: PS601559
Assertion and evidence details
Last Updated: Dec 24, 2023