NM_007315.4(STAT1):c.1066T>G (p.Tyr356Asp) AND Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003482195.1
Allele description [Variation Report for NM_007315.4(STAT1):c.1066T>G (p.Tyr356Asp)]
NM_007315.4(STAT1):c.1066T>G (p.Tyr356Asp)
Condition(s)
Assertion and evidence details
Last Updated: Feb 4, 2024