FRRS1L Chromosome 9
Ferric chelate reductase 1 like
Upload your DNA to see your personal genotypes for variants in FRRS1L.
What This Gene Does
This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016]
Associated Conditions (8)
Inborn genetic diseases
Developmental and epileptic encephalopathy
37
FRRS1L-related disorder
See cases
Seizure
Chorea
Progressive encephalopathy
Key Variants
RS1411339072
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 37
Health Risk
RS148986846
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy
Health Risk
RS149005559
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 37, Inborn genetic diseases
Health Risk
RS530413587
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 37, Inborn genetic diseases
Health Risk
RS768169514
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy
Health Risk
RS955397173
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 37, See cases
Health Risk
RS1382335133
Likely pathogenic
Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy
Health Risk
RS1564229228
Likely pathogenic
Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy
Health Risk
RS1831182685
Likely pathogenic
Health Risk
RS1831307625
Likely pathogenic
Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy
Health Risk
RS2538497105
Likely pathogenic
See cases, See cases
Health Risk
RS2538503024
Likely pathogenic
Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1411339072 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 37 |
| RS148986846 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS149005559 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 37, Inborn genetic diseases |
| RS530413587 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 37, Inborn genetic diseases |
| RS768169514 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS955397173 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 37, See cases |
| RS1382335133 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS1564229228 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS1831182685 | Health Risk | Likely pathogenic | — |
| RS1831307625 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS2538497105 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2538503024 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS1052826149 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS1285856108 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS1382090523 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS1564229174 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS1564232243 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS1831271059 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS2118467700 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS2118467979 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS2118524756 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS2538497130 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS2538516016 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS747737869 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS776257401 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS878853280 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Seizure |
| RS878853281 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Chorea |
| RS878853283 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Chorea |
| RS933379958 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS1035742818 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS1054228594 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 37, FRRS1L-related disorder |
| RS1310777849 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS1831184766 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS2538503118 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS779716535 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 37, Developmental and epileptic encephalopathy |
| RS878853282 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 37, Progressive encephalopathy |