NM_000022.4(ADA):c.606+8C>T 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:
- Mar 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003043039.3
Allele description [Variation Report for NM_000022.4(ADA):c.606+8C>T]
NM_000022.4(ADA):c.606+8C>T
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
-
zufsp zinc finger containing ubiquitin peptidase 1 [Danio rerio]
zufsp zinc finger containing ubiquitin peptidase 1 [Danio rerio]Gene ID:562478Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024