NM_001379200.1(TBX1):c.1375dup (p.Ala459fs) AND DiGeorge syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002872510.2
Allele description [Variation Report for NM_001379200.1(TBX1):c.1375dup (p.Ala459fs)]
NM_001379200.1(TBX1):c.1375dup (p.Ala459fs)
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 28, 2024