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Variant : CV555413 (GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3) Homo sapiens

Symbol: CV555413
Name: GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3
Condition: not provided [RCV000683718]
Clinical Significance: pathogenic
Last Evaluated: 02/23/2018
Review Status: no assertion criteria provided
Related Genes: ABHD2   ADAMTS17   ALDH1A3   ANPEP   AP3S2   ARPIN   ARPIN-AP3S2   ARRDC4   ASB7   BLM   C15orf32   CERS3   CHD2   CHSY1   CIB1   CRTC3   FAM169B   FAM174B   FANCI   FES   FURIN   GDPGP1   HDDC3   IDH2   IGF1R   IQGAP1   KIF7   LINC00928   LINS1   LRRC28   LRRK1   LYSMD4   MAN2A2   MCTP2   MEF2A   MESP1   MESP2   MIR9-3   NGRN   NR2F2   OR4F15   OR4F6   PCSK6   PEX11A   PGPEP1L   PLIN1   POLG   PRC1   RCCD1   RGMA   RHCG   RLBP1   SELENOS   SEMA4B   SLCO3A1   SNRPA1   SPATA8   ST8SIA2   SV2B   SYNM   TARSL2   TICRR   TM2D3   TTC23   UNC45A   VPS33B   WDR93   ZNF710   ZNF774  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.9:g.(?_89743929)_(102429112_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh371589,743,929 - 102,429,112CLINVAR
Cytogenetic Map1515q26.1-26.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13797426
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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