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Variant : CV164654 (GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3) Homo sapiens

Symbol: CV164654
Name: GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3
Condition: See cases [RCV000142967]
Clinical Significance: pathogenic
Last Evaluated: 08/20/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: A1CF   ADO   AGAP4   AGAP6   AGAP9   ALOX5   ANK3   ANK3-DT   ANTXRL   ANXA8   ANXA8L1   ARHGAP22   ARHGAP22-IT1   ARID5B   ASAH2   ASAH2B   BICC1   BMS1   C10orf53   C10orf71   C10orf71-AS1   CABCOCO1   CCDC6   CCEPR   CDK1   CHAT   CISD1   CSGALNACT2   CSTF2T   CTNNA3   CXCL12   DEPP1   DKK1   DRGX   EGR2   ERCC6   FAM13C   FAM170B   FAM170B-AS1   FAM245B   FAM25C   FAM25E   FAM25G   FRMPD2   FXYD4   GDF10   GDF2   GPRIN2   HNRNPF   IPMK   JMJD1C   JMJD1C-AS1   LINC00619   LINC00839   LINC00840   LINC00841   LINC00842   LINC00844   LINC00845   LINC01264   LINC01515   LINC01518   LINC01553   LINC02621   LINC02623   LINC02637   LINC02658   LINC02659   LINC02671   LINC02672   LINC02881   LNCAROD   LRRC18   LRRTM3   MAPK8   MARCHF8   MBL2   MIR1296   MIR3156-1   MIR3924   MIR4294   MIR5100   MIR548F1   MIR605   MRLN   MSMB   MTRNR2L5   NCOA4   NPY4R   NPY4R2   NRBF2   OGDHL   OR13A1   PARG   PCDH15   PGBD3   PHYHIPL   PRKG1   PRKG1-AS1   PTPN20   RASGEF1A   RASSF4   RBP3   REEP3   RET   RHOBTB1   RTKN2   SGMS1   SGMS1-AS1   SLC16A9   SLC18A3   SNORA74C-1   SNORA74C-2   SNORD3J   SYT15   TFAM   TIMM23   TIMM23B   TIMM23B-AGAP6   TMEM26   TMEM26-AS1   TMEM273   TMEM72   TMEM72-AS1   UBE2D1   VSTM4   WASHC2A   WASHC2C   WDFY4   ZFAND4   ZNF22   ZNF22-AS1   ZNF239   ZNF32   ZNF32-AS1   ZNF32-AS2   ZNF32-AS3   ZNF33B   ZNF365   ZNF485   ZNF487   ZNF488   ZWINT  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_42112187)_(67400675_?)dup
NC_000010.10:g.(?_42607635)_(69160433_?)dup
NC_000010.9:g.(?_41927641)_(68830439_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381042,112,187 - 67,400,675CLINVAR
GRCh371042,607,635 - 69,160,433CLINVAR
Build 361041,927,641 - 68,830,439CLINVAR
Cytogenetic Map1010q11.21-21.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490565
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.