NM_001184785.2(PARD3):c.1046G>A (p.Arg349His) AND Neural tube defect
- Germline classification:
- risk factor (1 submission)
- Last evaluated:
- May 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000490789.3
Allele description [Variation Report for NM_001184785.2(PARD3):c.1046G>A (p.Arg349His)]
NM_001184785.2(PARD3):c.1046G>A (p.Arg349His)
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: Apr 15, 2024