NM_001372044.2(SHANK3):c.4647G>A (p.Trp1549Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002214268.16
Allele description [Variation Report for NM_001372044.2(SHANK3):c.4647G>A (p.Trp1549Ter)]
NM_001372044.2(SHANK3):c.4647G>A (p.Trp1549Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Aug 4, 2024