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Variant : CV163312 (GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4) Homo sapiens

Symbol: CV163312
Name: GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4
Condition: See cases [RCV000141904]
Clinical Significance: pathogenic
Last Evaluated: 07/16/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD17B   ACER2   ACO1   ADAMTSL1   AGTPBP1   AK3   ALDH1A1   ALDH1B1   ANKRD18A   ANKRD18B   ANKRD20A1   ANKRD20A2   ANKRD20A3   ANKRD20A4   ANXA1   APBA1   APTX   AQP3   AQP7   ARHGEF39   ARID3C   B4GALT1   B4GALT1-AS1   BAG1   BANCR   BNC2   BNC2-AS1   C9orf131   C9orf135   C9orf135-DT   C9orf153   C9orf24   C9orf40   C9orf57   C9orf64   C9orf72   C9orf85   C9orf92   CA9   CAAP1   CARNMT1   CARNMT1-AS1   CBWD3   CBWD5   CBWD6   CCDC107   CCDC171   CCIN   CCL19   CCL21   CCL27   CD274   CD72   CDC37L1   CDC37L1-DT   CDK20   CDKN2A   CDKN2A-DT   CDKN2B   CDKN2B-AS1   CEMIP2   CEP78   CER1   CHMP5   CLTA   CNTFR   CNTFR-AS1   CNTLN   CNTNAP3   CNTNAP3B   CNTNAP3C   CREB3   CTSL   DAPK1   DAPK1-IT1   DCAF10   DCAF12   DCTN3   DDX58   DENND4C   DMAC1   DMRT1   DMRT2   DMRT3   DMRTA1   DNAI1   DNAJA1   DNAJB5   DNAJB5-DT   DOCK8   DOCK8-AS1   ELAVL2   ENHO   EQTN   ERMP1   ERVFRD-3   EXOSC3   FAM122A   FAM166B   FAM189A2   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   FOXB2   FOXD4L3   FOXD4L4   FOXD4L5   FOXD4L6   FREM1   FRMD3   FRMPD1   FXN   GALT   GAS1   GAS1RR   GBA2   GCNT1   GDA   GKAP1   GLDC   GLIDR   GLIPR2   GLIS3   GLIS3-AS1   GNA14   GNA14-AS1   GNAQ   GNE   GOLM1   GRHPR   HACD4   HAUS6   HINT2   HNRNPK   HRCT1   IDNK   IFNA1   IFNA10   IFNA13   IFNA14   IFNA16   IFNA17   IFNA2   IFNA21   IFNA4   IFNA5   IFNA6   IFNA7   IFNA8   IFNB1   IFNE   IFNK   IFNW1   IFT74   IFT74-AS1   IGFBPL1   IL11RA   IL33   INSL4   INSL6   ISCA1   IZUMO3   JAK2   KANK1   KCNV2   KDM4C   KIAA2026   KIF24   KIF27   KLF9   KLHL9   LERFS   LINC00032   LINC00537   LINC00583   LINC01189   LINC01230   LINC01231   LINC01235   LINC01239   LINC01241   LINC01242   LINC01243   LINC01251   LINC01410   LINC01474   LINC01504   LINC01506   LINC01507   LINC01627   LINC02851   LINC02872   LINGO2   LRRC19   LURAP1L   LURAP1L-AS1   MAMDC2   MAMDC2-AS1   MELK   MIR101-2   MIR12117   MIR1299   MIR204   MIR31   MIR3152   MIR31HG   MIR4473   MIR4474   MIR4475   MIR4476   MIR4477A   MIR4477B   MIR4540   MIR4665   MIR4667   MIR491   MIR6851   MIR6852   MIR6853   MIR7-1   MIR873   MIR876   MLANA   MLLT3   MOB3B   MPDZ   MSMP   MTAP   MYORG   NAA35   NDUFB6   NFIB   NFX1   NMRK1   NOL6   NPR2   NTRK2   NUDT2   OR13J1   OR2S2   OSTF1   PAX5   PCA3   PCSK5   PDCD1LG2   PGM5   PGM5-AS1   PHF24   PIGO   PIP5K1B   PLAA   PLGRKT   PLIN2   PLPP6   POLR1E   PRKACG   PRSS3   PRUNE2   PSAT1   PSIP1   PTAR1   PTENP1-AS   PTPRD   PTPRD-AS1   PTPRD-AS2   PUM3   RANBP6   RASEF   RCL1   RECK   RFK   RFX3   RFX3-AS1   RGP1   RIC1   RLN1   RLN2   RMI1   RMRP   RNF38   RORB   RORB-AS1   RPP25L   RPS6   RRAGA   RUSC2   SAXO1   SCARNA8   SH3GL2   SHB   SIGMAR1   SIT1   SLC1A1   SLC24A2   SLC25A51   SLC28A3   SMARCA2   SMC5   SMC5-AS1   SMIM27   SMU1   SNAPC3   SNORA30B   SNORD121A   SNORD121B   SNORD137   SPAAR   SPAG8   SPATA31A1   SPATA31A3   SPATA31A5   SPATA31A6   SPATA31A7   SPATA31C1   SPATA31C2   SPATA31D1   SPATA31D3   SPATA31D4   SPATA31E1   SPATA6L   SPINK4   STOML2   TAF1L   TEK   TESK1   TJP2   TLE1   TLE4   TLN1   TMC1   TMEM215   TMEM252   TMEM252-DT   TMEM8B   TOMM5   TOPORS   TPD52L3   TPM2   TRH-GTG1-6   TRMT10B   TRPM3   TRPM6   TTC39B   TUSC1   TUT7   TYRP1   UBAP1   UBAP2   UBE2R2   UBE2R2-AS1   UBQLN1   UHRF2   UNC13B   VCP   VLDLR   VLDLR-AS1   VPS13A   VPS13A-AS1   ZBTB5   ZCCHC7   ZDHHC21   ZFAND5   ZNF658  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_203861)_(88130444_?)dup
NC_000009.11:g.(?_203861)_(90745359_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389203,861 - 88,130,444CLINVAR
GRCh379203,861 - 90,745,359CLINVAR
Build 369193,861 - 89,935,179CLINVAR
Cytogenetic Map99p24.3-q22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489426
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.