NM_015466.4(PTPN23):c.1291C>T (p.Arg431Trp) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 15, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000853204.2
Allele description [Variation Report for NM_015466.4(PTPN23):c.1291C>T (p.Arg431Trp)]
NM_015466.4(PTPN23):c.1291C>T (p.Arg431Trp)
Condition(s)
- Name:
- Global developmental delay (DD)
- Identifiers:
- MedGen: C0557874; Human Phenotype Ontology: HP:0001263
- Name:
- Brain atrophy
- Identifiers:
- MedGen: C4551584; Human Phenotype Ontology: HP:0012444
Assertion and evidence details
Last Updated: Mar 16, 2024