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Variant : CV161506 (GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)) Homo sapiens

Symbol: CV161506
Name: GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)
Condition: See cases [RCV000140448]
Clinical Significance: pathogenic
Last Evaluated: 04/02/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACER2   ACO1   ADAMTSL1   ALDH1B1   ANKRD18A   ANKRD18B   ANKRD20A1   ANKRD20A2   ANKRD20A3   ANKRD20A4   APTX   AQP3   AQP7   ARHGEF39   ARID3C   B4GALT1   B4GALT1-AS1   BAG1   C9orf131   C9orf24   C9orf72   CA9   CAAP1   CBWD3   CBWD5   CBWD6   CCDC107   CCIN   CCL19   CCL21   CCL27   CD72   CDKN2A   CDKN2A-DT   CDKN2B   CDKN2B-AS1   CHMP5   CLTA   CNTFR   CNTFR-AS1   CNTNAP3   CNTNAP3B   CNTNAP3C   CREB3   DCAF10   DCAF12   DCTN3   DDX58   DENND4C   DMRTA1   DNAI1   DNAJA1   DNAJB5   DNAJB5-DT   ELAVL2   ENHO   EQTN   ERVFRD-3   EXOSC3   FAM166B   FAM201A   FAM205A   FAM205C   FAM214B   FAM219A   FAM221B   FAM242E   FAM242F   FAM27B   FAM27C   FAM27D1   FAM27E2   FAM27E3   FAM27E4   FAM74A1   FAM74A3   FAM74A4   FAM74A6   FAM74A7   FAM95B1   FAM95C   FANCG   FBXO10   FOCAD   FOCAD-AS1   FOXD4L4   FOXD4L5   FOXD4L6   FRMPD1   GALT   GBA2   GLIDR   GLIPR2   GNE   GRHPR   HACD4   HAUS6   HINT2   HRCT1   IFNA1   IFNA10   IFNA13   IFNA14   IFNA16   IFNA17   IFNA2   IFNA21   IFNA4   IFNA5   IFNA6   IFNA7   IFNA8   IFNB1   IFNE   IFNK   IFNW1   IFT74   IFT74-AS1   IGFBPL1   IL11RA   IZUMO3   KIF24   KLHL9   LERFS   LINC00032   LINC00537   LINC01189   LINC01239   LINC01241   LINC01242   LINC01243   LINC01251   LINC01410   LINC01627   LINGO2   LRRC19   MELK   MIR12117   MIR1299   MIR31   MIR3152   MIR31HG   MIR4473   MIR4474   MIR4475   MIR4476   MIR4477A   MIR4477B   MIR4540   MIR4667   MIR491   MIR6851   MIR6852   MIR6853   MIR873   MIR876   MLLT3   MOB3B   MSMP   MTAP   MYORG   NDUFB6   NFX1   NOL6   NPR2   NUDT2   OR13J1   OR2S2   PAX5   PHF24   PIGO   PLAA   PLIN2   POLR1E   PRSS3   PTENP1-AS   RECK   RGP1   RMRP   RNF38   RPP25L   RPS6   RRAGA   RUSC2   SAXO1   SCARNA8   SHB   SIGMAR1   SIT1   SLC24A2   SLC25A51   SMIM27   SMU1   SNORA30B   SNORD121A   SNORD121B   SPAAR   SPAG8   SPATA31A1   SPATA31A3   SPATA31A5   SPATA31A6   SPATA31A7   SPINK4   STOML2   TAF1L   TEK   TESK1   TLN1   TMEM215   TMEM8B   TOMM5   TOPORS   TPM2   TRMT10B   TUSC1   UBAP1   UBAP2   UBE2R2   UBE2R2-AS1   UNC13B   VCP   ZBTB5   ZCCHC7   ZNF658  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_18344605)_(68257015_?)dup
NC_000009.11:g.(?_18344603)_(68995221_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38918,344,605 - 68,257,015 (+)CLINVAR
GRCh37918,344,603 - 68,995,221CLINVAR
Build 36918,334,603 - 68,285,041CLINVAR
Cytogenetic Map99p22.2-q21.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487978
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.