NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) AND Neural tube defect
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001097605.12
Allele description [Variation Report for NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)]
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)
Condition(s)
- Name:
- Neural tube defect (NTD)
- Synonyms:
- Neural tube defects
- Identifiers:
- MONDO: MONDO:0018075; MedGen: C0027794; Orphanet: 823; OMIM: 182940; Human Phenotype Ontology: HP:0045005
Assertion and evidence details
Last Updated: Jun 2, 2024