NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) AND CHARGE syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Nov 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001509681.14
Allele description [Variation Report for NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu)]
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu)
Condition(s)
- Name:
- CHARGE syndrome (CHARGE)
- Synonyms:
- CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES; Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; CHARGE association; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008965; MedGen: C0265354; Orphanet: 138; OMIM: 214800
Assertion and evidence details
Last Updated: Oct 13, 2024