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  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1
  • Description:Novel LINE1-mediated retroinsertion of a transcript from the TMF1 gene on chr 3 into intron 1 of the CYBB gene on chr X in a patient affected with X-linked chronic granulomatous disease. Insertion results in the inclusion of an extra 117-bp exon, containing a premature stop codon, in the CYBB transcript.
  • Publication(s):de Boer et al. 2014

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 419 SVs from 21 studies. See in: genome view    
Remapped(Score: Perfect):37,781,029-37,781,029Question Mark
Overlapping variant regions from other studies: 413 SVs from 20 studies. See in: genome view    
Submitted genomic37,640,282-37,640,282Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv984436RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX37,781,02937,781,029
nsv984436Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX37,640,28237,640,282

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationZygosity
nssv3217055mobile element insertion1SequencingSequence alignmentChronic granulomatous disease, X-linkedPathogenicSubmitterHeterozygous

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
GRCh38.p12First PassNC_000023.11ChrX37,781,02937,781,029
nssv3217055Submitted genomicNC_000023.10:g.376
GRCh37 (hg19)NC_000023.10ChrX37,640,28237,640,282

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeSubject PhenotypeClinical InterpretationSource of InterpretationGenderAge
nssv32170551GRCh37: NC_000023.10:g.37640282_37640283ins5839mobile element insertionChronic granulomatous disease, X-linkedPathogenicSubmitterMale22 years

No genotype data were submitted for this variant

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