NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002490089.1
Allele description [Variation Report for NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp)]
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp)
Condition(s)
- Name:
- Saldino-Mainzer syndrome (SRTD9)
- Synonyms:
- Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; Conorenal syndrome; SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009964; MedGen: C1849437; Orphanet: 140969; OMIM: 266920
Assertion and evidence details
Last Updated: Sep 29, 2024