NM_000215.4(JAK3):c.1503G>T (p.Gln501His) AND T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001204387.8
Allele description [Variation Report for NM_000215.4(JAK3):c.1503G>T (p.Gln501His)]
NM_000215.4(JAK3):c.1503G>T (p.Gln501His)
Condition(s)
- Name:
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Synonyms:
- SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative; SCID, autosomal recessive, T-negative/B-positive type
- Identifiers:
- MONDO: MONDO:0010938; MedGen: C1833275; Orphanet: 35078; OMIM: 600802
Assertion and evidence details
Last Updated: Sep 29, 2024