ARV1
ARV1 fatty acid homeostasis modulator
Summary
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]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11122174 | 1:231,114,595 | C/T | regulatory region variant | — |
| rs774445829 | 1:231,114,853 | T/C | — | likely pathogenic |
| rs368096556 | 1:231,114,860 | C/T | — | likely benign |
| rs747844345 | 1:231,114,880 | A/G | — | uncertain significance |
| rs1678734902 | 1:231,114,900 | G/A | — | uncertain significance |
| rs143532693 | 1:231,114,915 | A/T | — | likely benign |
| rs140251959 | 1:231,114,924 | G/T | — | likely benign |
| rs752101166 | 1:231,114,932 | G/T | — | likely benign |
| rs34745784 | 1:231,114,945 | T/C | — | likely benign |
| rs778567340 | 1:231,114,952 | G/A | — | uncertain significance |
| rs578167943 | 1:231,114,976 | A/G | — | uncertain significance |
| rs10779804 | 1:231,124,055 | T/C | — | benign |
| rs763598898 | 1:231,124,056 | A/C | — | likely benign |
| rs1294383261 | 1:231,124,064 | A/G | — | likely pathogenic |
| rs141851104 | 1:231,124,070 | C/A | — | uncertain significance |
| rs1303996708 | 1:231,124,105 | G/A | — | uncertain significance |
| rs749512504 | 1:231,124,108 | C/T | — | uncertain significance |
| rs150619347 | 1:231,124,186 | G/A | splice region variant | pathogenic |
| rs746189754 | 1:231,125,851 | A/G | — | uncertain significance |
| rs35764859 | 1:231,125,863 | G/A | — | benign |
| rs777737376 | 1:231,125,915 | G/C | — | uncertain significance |
| rs751344521 | 1:231,125,921 | A/G | — | likely benign |
| rs868053135 | 1:231,126,010 | G/T | — | likely pathogenic |
| rs1679344143 | 1:231,131,532 | T/A | — | uncertain significance |
| rs376937598 | 1:231,131,559 | A/G | — | uncertain significance |
| rs35606565 | 1:231,131,585 | C/T | — | benign |
| rs1679348409 | 1:231,131,602 | C/T | — | uncertain significance |
| rs730882241 | 1:231,131,622 | G/A | missense variant | pathogenic |
| rs149704278 | 1:231,131,703 | C/T | — | uncertain significance |
| rs767939327 | 1:231,131,712 | A/C | — | uncertain significance |
| rs141782810 | 1:231,131,713 | A/C | — | uncertain significance |
| rs201927559 | 1:231,131,724 | A/G | — | uncertain significance |
| rs1192627743 | 1:231,132,865 | A/T | — | conflicting classifications of pathogenicity |
| rs545841146 | 1:231,132,884 | C/T | — | uncertain significance |
| rs368169867 | 1:231,132,885 | G/A | — | uncertain significance |
| rs1347711366 | 1:231,132,905 | G/A | — | likely benign |
| rs779080654 | 1:231,132,925 | G/A | — | likely benign |
| rs2527626819 | 1:231,132,939 | T/A | — | uncertain significance |
| rs1189279824 | 1:231,132,952 | G/C | — | uncertain significance |
| rs772256029 | 1:231,132,954 | G/A | — | uncertain significance |
| rs200114138 | 1:231,133,014 | G/A | — | uncertain significance |
| rs548214969 | 1:231,134,216 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.