NM_206937.2(LIG4):c.607A>G (p.Ile203Val) AND Severe combined immunodeficiency due to DCLRE1C deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000393068.5
Allele description [Variation Report for NM_206937.2(LIG4):c.607A>G (p.Ile203Val)]
NM_206937.2(LIG4):c.607A>G (p.Ile203Val)
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
Assertion and evidence details
Last Updated: Apr 9, 2023