NM_005859.5(PURA):c.265G>A (p.Ala89Thr) AND Neurodevelopmental disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000782038.2
Allele description [Variation Report for NM_005859.5(PURA):c.265G>A (p.Ala89Thr)]
NM_005859.5(PURA):c.265G>A (p.Ala89Thr)
Condition(s)
- Name:
- Neurodevelopmental disorder
- Identifiers:
- MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926
Assertion and evidence details
Last Updated: Oct 13, 2024