NM_001384732.1(CPLANE1):c.8287G>A (p.Glu2763Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 16, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000547081.1
Allele description
NM_001384732.1(CPLANE1):c.8287G>A (p.Glu2763Lys)
Condition(s)
- Name:
- Orofaciodigital syndrome type 6 (OFD6)
- Synonyms:
- OFDS VI; POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION; VARADI SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010176; MedGen: C2745997; Orphanet: 2754; OMIM: 277170
Assertion and evidence details
Last Updated: Jul 16, 2023