NM_022830.3(TUT1):c.1297G>A (p.Ala433Thr) AND Abnormal brain morphology
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000454332.1
Allele description [Variation Report for NM_022830.3(TUT1):c.1297G>A (p.Ala433Thr)]
NM_022830.3(TUT1):c.1297G>A (p.Ala433Thr)
Condition(s)
- Name:
- Abnormal brain morphology
- Synonyms:
- Abnormality of brain morphology
- Identifiers:
- MedGen: C4021085; Human Phenotype Ontology: HP:0012443
Assertion and evidence details
Last Updated: Nov 11, 2023