NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) AND Neurodevelopmental delay
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002274039.3
Allele description [Variation Report for NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met)]
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met)
Condition(s)
- Name:
- Neurodevelopmental delay
- Identifiers:
- MedGen: C4022738; Human Phenotype Ontology: HP:0012758
Assertion and evidence details
Last Updated: May 1, 2024