NM_002838.5(PTPRC):c.310G>A (p.Val104Ile) AND Immunodeficiency 104
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001041749.4
Allele description [Variation Report for NM_002838.5(PTPRC):c.310G>A (p.Val104Ile)]
NM_002838.5(PTPRC):c.310G>A (p.Val104Ile)
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; Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, IL7R-Related
- Identifiers:
- MONDO: MONDO:0012163; MedGen: C5676890; OMIM: 608971
Assertion and evidence details
Last Updated: Aug 5, 2023