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nsv5381724

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:10,168
  • Description:NC_000007.13:g.(?_66094052)_(66104219_?)del AND Progressive myoclonic epilepsy type 3

Genome View

Select assembly:
Overlapping variant regions from other studies: 146 SVs from 47 studies. See in: genome view    
Remapped(Score: Perfect):66,629,065-66,639,232Question Mark
Overlapping variant regions from other studies: 146 SVs from 47 studies. See in: genome view    
Submitted genomic66,094,052-66,104,219Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv5381724RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr766,629,06566,639,232
nsv5381724Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr766,094,05266,104,219

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17171773deletionMultipleMultipleEPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3; Epilepsy, progressive myoclonic 3; Progressive myoclonic epilepsy type 3; See individual phenotypes in OMIM allelic variantsPathogenicClinVarRCV001389250.4, VCV001075621.4

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17171773RemappedPerfectNC_000007.14:g.(?_
66629065)_(6663923
2_?)del
GRCh38.p12First PassNC_000007.14Chr766,629,06566,639,232
nssv17171773Submitted genomicNC_000007.13:g.(?_
66094052)_(6610421
9_?)del
GRCh37 (hg19)NC_000007.13Chr766,094,05266,104,219

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17171773GRCh37: NC_000007.13:g.(?_66094052)_(66104219_?)deldeletiongermlineEPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3; Epilepsy, progressive myoclonic 3; Progressive myoclonic epilepsy type 3; See individual phenotypes in OMIM allelic variantsPathogenicClinVarRCV001389250.4, VCV001075621.4

No genotype data were submitted for this variant

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