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Variant : CV162397 (GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3) Homo sapiens

Symbol: CV162397
Name: GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3
Condition: See cases [RCV000141179]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADO   ANK3   ANK3-DT   ARID5B   BICC1   CABCOCO1   CCDC6   CCEPR   CDK1   CISD1   CTNNA3   EGR2   FAM13C   IPMK   JMJD1C   JMJD1C-AS1   LINC00844   LINC00845   LINC01515   LINC01553   LINC02621   LINC02671   LRRTM3   MIR1296   MIR3924   MIR7151   MRLN   MTRNR2L5   NRBF2   PCDH15   PHYHIPL   REEP3   RHOBTB1   RTKN2   SLC16A9   TFAM   TMEM26   TMEM26-AS1   UBE2D1   ZNF365   ZWINT  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_55287177)_(67558442_?)dup
NC_000010.10:g.(?_57046937)_(69318200_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381055,287,177 - 67,558,442CLINVAR
GRCh371057,046,937 - 69,318,200CLINVAR
Build 361056,716,943 - 68,988,206CLINVAR
Cytogenetic Map1010q21.1-21.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488706
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.