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Variant : CV161814 (GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3) Homo sapiens

Symbol: CV161814
Name: GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3
Condition: See cases [RCV000140717]
Clinical Significance: likely pathogenic
Last Evaluated: 11/26/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD12B   ARF6   ATG14   ATL1   BMP4   C14orf28   CDKL1   CDKN3   CGRRF1   CNIH1   DDHD1   DLGAP5   DMAC2L   DNAAF2   ERO1A   FANCM   FBXO33   FBXO34   FERMT2   FKBP3   FRMD6   FRMD6-AS1   FRMD6-AS2   FSCB   GCH1   GMFB   GNG2   GNPNAT1   GPR137C   KLHDC1   KLHDC2   KLHL28   KTN1   KTN1-AS1   L2HGDH   LGALS3   LINC00519   LINC00520   LINC00640   LINC00648   LINC00871   LINC01588   LINC01599   LINC02284   LINC02302   LINC02303   LINC02307   LINC02310   LINC02315   LINC02319   LINC02331   LRFN5   LRR1   MAP4K5   MAPK1IP1L   MDGA2   MGAT2   MIA2   MIR4308   MIR4504   MIR548Y   MIR5580   MIR6076   MIS18BP1   NEMF   NID2   NIN   PELI2   POLE2   PRPF39   PSMC6   PTGDR   PTGER2   PYGL   RN7SL1   RN7SL2   RN7SL3   RPL10L   RPL36AL   RPS29   RTRAF   SAMD4A   SAV1   SNORD127   SOCS4   SOS2   STYX   TBPL2   TMEM260   TMX1   TOGARAM1   TRIM9   TXNDC16   VCPKMT   WDHD1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_39196172)_(56714461_?)dup
NC_000014.8:g.(?_39665376)_(57181179_?)dup
NC_000014.7:g.(?_38735127)_(56250932_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381439,196,172 - 56,714,461CLINVAR
GRCh371439,665,376 - 57,181,179CLINVAR
Build 361438,735,127 - 56,250,932CLINVAR
Cytogenetic Map1414q21.1-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9488246
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.