NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) AND Severe combined immunodeficiency due to DCLRE1C deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000382071.6
Allele description [Variation Report for NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)]
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)
Condition(s)
- Name:
- Severe combined immunodeficiency due to DCLRE1C deficiency (RS-SCID)
- Synonyms:
- Severe combined immunodeficiency with sensitivity to ionizing radiation; SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
- Identifiers:
- MONDO: MONDO:0011225; MedGen: C1865370; Orphanet: 275; OMIM: 602450
-
nitrogen regulatory protein P-II [Granulicella mallensis MP5ACTX8]
nitrogen regulatory protein P-II [Granulicella mallensis MP5ACTX8]gi|358754234|gnl|jgi|AciX8_3326|gb| 624.1|Protein
-
mrj [Amyelois transitella]
mrj [Amyelois transitella]Gene ID:106131894Gene
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Last Updated: Sep 29, 2024