NM_012309.5(SHANK2):c.4780G>A (p.Ala1594Thr) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002964416.2
Allele description [Variation Report for NM_012309.5(SHANK2):c.4780G>A (p.Ala1594Thr)]
NM_012309.5(SHANK2):c.4780G>A (p.Ala1594Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024