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Variant : CV163185 (GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3) Homo sapiens

Symbol: CV163185
Name: GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3
Condition: See cases [RCV000141823]
Clinical Significance: likely pathogenic
Last Evaluated: 06/11/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AADACL3   AADACL4   AGTRAP   ANGPTL7   C1orf158   C1orf167   C1orf167-AS1   C1orf195   CLCN6   DHRS3   DISP3   DRAXIN   EXOSC10   EXOSC10-AS1   FBXO2   FBXO44   FBXO6   FHAD1   HNRNPCL1   HNRNPCL2   HNRNPCL3   HNRNPCL4   KAZN   KAZN-AS1   KIAA2013   LINC01647   LINC01784   LINC02766   LRRC38   MAD2L2   MASP2   MFN2   MIIP   MIR4632   MIR6729   MIR6730   MIR7846   MTHFR   MTOR   MTOR-AS1   NPPA   NPPA-AS1   NPPB   PDPN   PLOD1   PRAMEF1   PRAMEF10   PRAMEF11   PRAMEF12   PRAMEF13   PRAMEF14   PRAMEF15   PRAMEF17   PRAMEF18   PRAMEF19   PRAMEF2   PRAMEF20   PRAMEF25   PRAMEF26   PRAMEF27   PRAMEF33   PRAMEF4   PRAMEF5   PRAMEF6   PRAMEF7   PRAMEF8   PRAMEF9   PRDM2   RNU5E-1   SNORA59A   SRM   TARDBP   TMEM51   TMEM51-AS1   TNFRSF1B   TNFRSF8   UBIAD1   VPS13D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_11021751)_(15236671_?)dup
NC_000001.10:g.(?_11081808)_(15563167_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,021,751 - 15,236,671CLINVAR
GRCh37111,081,808 - 15,563,167CLINVAR
Build 36111,004,395 - 15,435,754CLINVAR
Cytogenetic Map11p36.22-36.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489346
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.