NM_000732.6(CD3D):c.138A>C (p.Gly46=) AND Immunodeficiency 19
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003744204.1
Allele description [Variation Report for NM_000732.6(CD3D):c.138A>C (p.Gly46=)]
NM_000732.6(CD3D):c.138A>C (p.Gly46=)
Condition(s)
- Name:
- Immunodeficiency 19 (IMD19)
- Synonyms:
- CD3-DELTA DEFICIENCY; SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE; SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0014280; MedGen: C3810147; OMIM: 615617
Assertion and evidence details
Last Updated: Sep 1, 2024