Gene entry
EPG5
ectopic P-granules 5 autophagy tethering factor
- Chromosome
- 18
- Cytoband
- 18q12.3-q21.1
- Variants (rsID)
- 53
EPG5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q12.3-q21.1). Its official name is “ectopic P-granules 5 autophagy tethering factor”. The reference table lists 53 variants (rsID) for this gene.
Clinically classified variants
17 reference-table entries with clinical significance.
- rs140494095Benignsingle nucleotide variantVici syndrome
- rs148777356Benignsingle nucleotide variantVici syndrome
- rs180913079Benignsingle nucleotide variantVici syndrome
- rs1893523Benignsingle nucleotide variantVici syndrome
- rs3744996Benignsingle nucleotide variantVici syndrome
- rs3744998Benignsingle nucleotide variantVici syndrome
- rs57761448Benignsingle nucleotide variantVici syndrome
- rs59422275Benignsingle nucleotide variantVici syndrome
- rs72918350Benignsingle nucleotide variantVici syndrome
- rs78339727Benignsingle nucleotide variantVici syndrome
- rs144860976Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Vici syndrome
- rs148641800Conflicting interpretationssingle nucleotide variantVici syndrome
- rs61978576Conflicting interpretationssingle nucleotide variantVici syndrome
- rs183478189Pathogenicsingle nucleotide variantVici syndrome
- rs201757275Pathogenicsingle nucleotide variantVici syndrome
- rs201678945Uncertain significancesingle nucleotide variantVici syndrome
- rs78690150Uncertain significancesingle nucleotide variantVici syndrome
Other listed variants
- rs490696
- rs531762
- rs567801
- rs894050
- rs1944338
- rs4890302
- rs7227347
- rs7237763
- rs9950550
- rs9963493
- rs9964220
- rs11082490
- rs61734402
- rs62095409
- rs72916299
- rs75033355
- rs75370733
- rs75438218
- rs77661528
- rs77684190
- rs78016361
- rs78427862
- rs78927163
- rs114254596
- rs117391059
- rs117767115
- rs143970247
- rs144175319
- rs144272370
- rs180886291
- rs182512524
- rs183660877
- rs191824898
- rs201980410
- rs201983775
- rs373116504
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.