NM_000557.5(GDF5):c.506C>A (p.Pro169His) AND Grebe syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001137811.4
Allele description [Variation Report for NM_000557.5(GDF5):c.506C>A (p.Pro169His)]
NM_000557.5(GDF5):c.506C>A (p.Pro169His)
Condition(s)
- Name:
- Grebe syndrome
- Synonyms:
- Acromesomelic dysplasia, Grebe type; Brazilian achondrogenesis; Grebe dysplasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008703; MedGen: C0265260; Orphanet: 2098; OMIM: 200700
Assertion and evidence details
Last Updated: Aug 5, 2023