NM_001033855.3(DCLRE1C):c.1362A>G (p.Glu454=) AND Severe combined immunodeficiency due to DCLRE1C deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003612108.1
Allele description [Variation Report for NM_001033855.3(DCLRE1C):c.1362A>G (p.Glu454=)]
NM_001033855.3(DCLRE1C):c.1362A>G (p.Glu454=)
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
-
Mus musculus ELL associated factor 2, mRNA (cDNA clone MGC:67901 IMAGE:5008372),...
Mus musculus ELL associated factor 2, mRNA (cDNA clone MGC:67901 IMAGE:5008372), complete cdsgi|34785284|gb|BC056626.1|Nucleotide
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Last Updated: Feb 28, 2024