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Variant : CV154098 (GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3) Homo sapiens

Symbol: CV154098
Name: GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3
Condition: See cases [RCV000133829]
Clinical Significance: pathogenic
Last Evaluated: 12/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALDH1B1   ANKRD18B   AQP3   AQP7   ARHGEF39   ARID3C   BAG1   C9orf131   C9orf24   CA9   CCDC107   CCIN   CCL19   CCL21   CCL27   CD72   CHMP5   CLTA   CNTFR   CNTFR-AS1   CREB3   DCAF10   DCAF12   DCTN3   DNAI1   DNAJB5   DNAJB5-DT   ENHO   EXOSC3   FAM166B   FAM205A   FAM205C   FAM214B   FAM219A   FAM221B   FANCG   FBXO10   FRMPD1   GALT   GBA2   GLIPR2   GNE   GRHPR   HINT2   HRCT1   IGFBPL1   IL11RA   KIF24   LINC01251   LINC01627   MELK   MIR4475   MIR4476   MIR4540   MIR4667   MIR6851   MIR6852   MIR6853   MSMP   MYORG   NFX1   NOL6   NPR2   NUDT2   OR13J1   OR2S2   PAX5   PHF24   PIGO   POLR1E   PRSS3   PTENP1-AS   RECK   RGP1   RMRP   RNF38   RPP25L   RUSC2   SHB   SIGMAR1   SIT1   SLC25A51   SNORD121A   SNORD121B   SPAAR   SPAG8   SPINK4   STOML2   TESK1   TLN1   TMEM8B   TOMM5   TPM2   TRMT10B   UBAP1   UBAP2   UBE2R2   UBE2R2-AS1   UNC13B   VCP   ZBTB5   ZCCHC7  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_33225730)_(38529813_?)dup
NC_000009.11:g.(?_33225728)_(38529810_?)dup
NC_000009.10:g.(?_33215728)_(38519810_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38933,225,730 - 38,529,813CLINVAR
GRCh37933,225,728 - 38,529,810CLINVAR
Build 36933,215,728 - 38,519,810CLINVAR
Cytogenetic Map99p13.3-13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481414
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.