NM_033629.6(TREX1):c.312G>C (p.Leu104=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000887494.8
Allele description [Variation Report for NM_033629.6(TREX1):c.312G>C (p.Leu104=)]
NM_033629.6(TREX1):c.312G>C (p.Leu104=)
Condition(s)
- Name:
- Aicardi-Goutieres syndrome 1
- Synonyms:
- CREE ENCEPHALITIS; ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS; PSEUDOTOXOPLASMOSIS SYNDROME
- Identifiers:
- MONDO: MONDO:0009165; MedGen: C0796126; Orphanet: 51; OMIM: 225750
- Name:
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS)
- Synonyms:
- Vasculopathy, retinal, with cerebral leukodystrophy; Cerebroretinal vasculopathy, hereditary; Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
- Identifiers:
- MONDO: MONDO:0008641; MedGen: C1860518; Orphanet: 3421; Orphanet: 63261; Orphanet: 71291; OMIM: 192315
Assertion and evidence details
Last Updated: Nov 10, 2024