NM_000022.4(ADA):c.15C>A (p.Pro5=) AND Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003497810.2
Allele description [Variation Report for NM_000022.4(ADA):c.15C>A (p.Pro5=)]
NM_000022.4(ADA):c.15C>A (p.Pro5=)
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
-
PREDICTED: Mus musculus Rap1 GTPase-activating protein (Rap1gap), transcript var...
PREDICTED: Mus musculus Rap1 GTPase-activating protein (Rap1gap), transcript variant X15, mRNAgi|1907153843|ref|XM_006538482.5|Nucleotide
-
peptidase 1 [Dermatophagoides farinae]
peptidase 1 [Dermatophagoides farinae]gi|2205477332|ref|XP_046919163.1|Protein
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Last Updated: Sep 29, 2024