NM_002185.5(IL7R):c.32T>G (p.Val11Gly) AND Immunodeficiency 104
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003020175.2
Allele description [Variation Report for NM_002185.5(IL7R):c.32T>G (p.Val11Gly)]
NM_002185.5(IL7R):c.32T>G (p.Val11Gly)
Condition(s)
- Name:
- Immunodeficiency 104
- Synonyms:
- SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive; IMMUNODEFICIENCY 104, SEVERE COMBINED; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012163; MedGen: C5676890; OMIM: 608971
Assertion and evidence details
Last Updated: Sep 29, 2024