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Variant : CV161733 (GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3) Homo sapiens

Symbol: CV161733
Name: GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3
Condition: See cases [RCV000140658]
Clinical Significance: likely pathogenic
Last Evaluated: 12/10/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAMTS17   ALDH1A3   ARRDC4   ASB7   CERS3   CERS3-AS1   CHSY1   FAM169B   IGF1R   IRAIN   LINC00923   LINC01582   LINC02244   LINC02251   LINC02254   LINC02348   LINC02351   LINS1   LRRC28   LRRK1   LUNAR1   LYSMD4   MEF2A   MIR4714   OR4F15   OR4F6   PCSK6   PCSK6-AS1   PGPEP1L   SELENOS   SNRPA1   SPATA41   SYNM   TARSL2   TM2D3   TTC23  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_97283711)_(101920998_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381597,283,711 - 101,920,998CLINVAR
GRCh371597,826,941 - 102,461,201CLINVAR
Build 361595,627,945 - 100,278,724CLINVAR
Cytogenetic Map1515q26.2-26.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9488188
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.