NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=) AND Severe combined immunodeficiency due to DCLRE1C deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000885023.8
Allele description [Variation Report for NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=)]
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=)
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
-
Sequence 4 from patent US 9062043
Sequence 4 from patent US 9062043gi|990205590|gb|AMF23312.1||pat|US| 43|4Protein
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Last Updated: Sep 29, 2024