NM_001379200.1(TBX1):c.762T>C (p.Tyr254=) AND DiGeorge syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002647526.2
Allele description [Variation Report for NM_001379200.1(TBX1):c.762T>C (p.Tyr254=)]
NM_001379200.1(TBX1):c.762T>C (p.Tyr254=)
Condition(s)
- Name:
- DiGeorge syndrome
- Synonyms:
- Hypoplasia of thymus and parathyroid; Third and fourth pharyngeal pouch syndrome; DiGeorge anomaly; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008564; MedGen: C0012236; Orphanet: 567; OMIM: 188400
Assertion and evidence details
Last Updated: Feb 14, 2024