NM_001033855.3(DCLRE1C):c.973-18T>C AND Severe combined immunodeficiency due to DCLRE1C deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003851999.2
Allele description [Variation Report for NM_001033855.3(DCLRE1C):c.973-18T>C]
NM_001033855.3(DCLRE1C):c.973-18T>C
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
-
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Homo sapiens LINGO1 antisense RNA 2 (LINGO1-AS2), transcript variant 1, long non-coding RNAgi|629266079|ref|NR_120361.1|Nucleotide
-
Macaca mulatta clone RM02 microcephalin (Mcph1) gene, exon 11 and partial cds
Macaca mulatta clone RM02 microcephalin (Mcph1) gene, exon 11 and partial cdsgi|46325684|gb|AY506191.1|Nucleotide
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Last Updated: Sep 29, 2024