NM_001379200.1(TBX1):c.1051C>A (p.Arg351=) AND DiGeorge syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002640379.2
Allele description [Variation Report for NM_001379200.1(TBX1):c.1051C>A (p.Arg351=)]
NM_001379200.1(TBX1):c.1051C>A (p.Arg351=)
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
-
RefSeq RNA Links for Gene (Select 3155) (2)
Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024