NM_007315.4(STAT1):c.1992G>C (p.Leu664=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002079678.5
Allele description
NM_007315.4(STAT1):c.1992G>C (p.Leu664=)
Condition(s)
- Name:
- Immunodeficiency 31B
- Synonyms:
- STAT1 DEFICIENCY, AUTOSOMAL RECESSIVE; Mycobacterial and viral infections, susceptibility to, autosomal recessive; IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE
- Identifiers:
- MONDO: MONDO:0013427; MedGen: C3151088; OMIM: 613796
Assertion and evidence details
Last Updated: Feb 28, 2024