NM_000022.4(ADA):c.349T>C (p.Trp117Arg) AND Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- Germline classification:
- Uncertain significance (4 submissions)
- Last evaluated:
- Nov 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001350532.12
Allele description [Variation Report for NM_000022.4(ADA):c.349T>C (p.Trp117Arg)]
NM_000022.4(ADA):c.349T>C (p.Trp117Arg)
Condition(s)
- Name:
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- Synonyms:
- ADA-SCID; SCID DUE TO ADA DEFICIENCY, EARLY-ONSET; ADA deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007064; MedGen: C1863236; Orphanet: 277; OMIM: 102700
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Mus musculus aspartate beta-hydroxylase domain containing 2 (Asphd2), transcript...
Mus musculus aspartate beta-hydroxylase domain containing 2 (Asphd2), transcript variant 5, mRNAgi|1257171116|ref|NM_001357014.1|Nucleotide
-
Mus musculus retention in endoplasmic reticulum sorting receptor 1 (Rer1), mRNA
Mus musculus retention in endoplasmic reticulum sorting receptor 1 (Rer1), mRNAgi|13385881|ref|NM_026395.1|Nucleotide
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Last Updated: Sep 29, 2024