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
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Colinus virginianus strain:Texas
Colinus virginianus strain:TexasColinus virginianus strain:Texas Genome sequencing and assemblyBioProject
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BioProject Links for Protein (Select 1215485117) (1)
BioProject
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Lactiplantibacillus plantarum strain RI-191 20150702.X-R191_S9_R1_001__paired__c...
Lactiplantibacillus plantarum strain RI-191 20150702.X-R191_S9_R1_001__paired__contig_1, whole genome shotgun sequencegi|1274083708|gb|MKDA01000001.1||gn :MKDA01|20150702.X-R191_S9_R1_001__paired__contig_1Nucleotide
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SBF2-AS1 SBF2 antisense RNA 1 [Homo sapiens]
SBF2-AS1 SBF2 antisense RNA 1 [Homo sapiens]Gene ID:283104Gene
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Gene Links for GEO Profiles (Select 104598429) (1)
Gene
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Last Updated: Feb 14, 2024