ARV1 Chromosome 1
ARV1 fatty acid homeostasis modulator
Upload your DNA to see your personal genotypes for variants in ARV1.
What This Gene Does
this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]
Associated Conditions (9)
Inborn genetic diseases
Developmental and epileptic encephalopathy
38
3-methylglutaconic aciduria
type VIIB
Neurodegeneration
Blindness
Abnormality of the nervous system
ARV1-related disorder
Key Variants
RS1192627743
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 38
Health Risk
RS1294383261
Likely pathogenic
Developmental and epileptic encephalopathy, 38, Developmental and epileptic encephalopathy
Health Risk
RS1572343011
Likely pathogenic
Health Risk
RS1679188636
Likely pathogenic
Health Risk
RS2527624286
Likely pathogenic
Developmental and epileptic encephalopathy, 38, Developmental and epileptic encephalopathy
Health Risk
RS2527624366
Likely pathogenic
Developmental and epileptic encephalopathy, 38, Developmental and epileptic encephalopathy
Health Risk
RS544784472
Likely pathogenic
Developmental and epileptic encephalopathy, 38, 3-methylglutaconic aciduria
Health Risk
RS730882241
Likely pathogenic
Neurodegeneration, Blindness, Developmental and epileptic encephalopathy
Health Risk
RS769858809
Likely pathogenic
Developmental and epileptic encephalopathy, 38, Developmental and epileptic encephalopathy
Health Risk
RS774445829
Likely pathogenic
Health Risk
RS868053135
Likely pathogenic
Health Risk
RS150619347
Pathogenic
Developmental and epileptic encephalopathy, 38, ARV1-related disorder
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1192627743 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 38 |
| RS1294383261 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 38, Developmental and epileptic encephalopathy |
| RS1572343011 | Health Risk | Likely pathogenic | — |
| RS1679188636 | Health Risk | Likely pathogenic | — |
| RS2527624286 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 38, Developmental and epileptic encephalopathy |
| RS2527624366 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 38, Developmental and epileptic encephalopathy |
| RS544784472 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 38, 3-methylglutaconic aciduria |
| RS730882241 | Health Risk | Likely pathogenic | Neurodegeneration, Blindness, Developmental and epileptic encephalopathy |
| RS769858809 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 38, Developmental and epileptic encephalopathy |
| RS774445829 | Health Risk | Likely pathogenic | — |
| RS868053135 | Health Risk | Likely pathogenic | — |
| RS150619347 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 38, ARV1-related disorder |
| RS2527584557 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |