NM_001372044.2(SHANK3):c.4019A>T (p.Asp1340Val) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 30, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002318103.9
Allele description [Variation Report for NM_001372044.2(SHANK3):c.4019A>T (p.Asp1340Val)]
NM_001372044.2(SHANK3):c.4019A>T (p.Asp1340Val)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Oct 20, 2024