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Variant : CV157375 (GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3) Homo sapiens

Symbol: CV157375
Name: GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3
Condition: See cases [RCV000136788]
Clinical Significance: pathogenic
Last Evaluated: 01/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCA1   ABHD17B   AGTPBP1   ALDH1A1   ALDOB   ALG2   ANKS6   ANP32B   ANXA1   AOPEP   APBA1   ASPN   AUH   BAAT   BANCR   BARX1   BARX1-DT   BICD2   C9orf129   C9orf135   C9orf135-DT   C9orf153   C9orf40   C9orf47   C9orf57   C9orf64   C9orf85   CARD19   CARNMT1   CARNMT1-AS1   CAVIN4   CCDC180   CDC14B   CDK20   CEMIP2   CENPP   CEP78   CKS2   COL15A1   CORO2A   CT70   CTSL   CTSV   CYLC2   DAPK1   DAPK1-IT1   DIRAS2   ECM2   ERCC6L2   ERP44   FAM120A   FAM120AOS   FAM122A   FAM189A2   FANCC   FBP1   FBP2   FGD3   FKTN   FOXB2   FOXE1   FRMD3   FSD1L   FXN   GABBR2   GADD45G   GALNT12   GAS1   GAS1RR   GCNT1   GDA   GKAP1   GNA14   GNA14-AS1   GNAQ   GOLM1   GRIN3A   HABP4   HEMGN   HNRNPK   HSD17B3   HSD17B3-AS1   IARS1   IDNK   INVS   IPPK   ISCA1   KIF27   KLF9   LINC00092   LINC00475   LINC00476   LINC00484   LINC00587   LINC01474   LINC01492   LINC01501   LINC01504   LINC01506   LINC01507   LINC01508   LINC02603   LINC02843   LINC02872   MAMDC2   MAMDC2-AS1   MFSD14B   MFSD14C   MIR1302-8   MIR204   MIR2278   MIR23B   MIR24-1   MIR27B   MIR3074   MIR3153   MIR3651   MIR3910-1   MIR3910-2   MIR4289   MIR4290   MIR4290HG   MIR4291   MIR4670   MIR548AU   MIR6081   MIR6854   MIR7-1   MIRLET7A1   MIRLET7D   MIRLET7F1   MRPL50   MSANTD3   MSANTD3-TMEFF1   NAA35   NAMA   NANS   NCBP1   NFIL3   NINJ1   NIPSNAP3A   NIPSNAP3B   NMRK1   NOL8   NR4A3   NTRK2   NUTM2F   NUTM2G   NXNL2   OGN   OMD   OR13C2   OR13C3   OR13C4   OR13C5   OR13C8   OR13C9   OR13D1   OR13F1   OSTF1   PCA3   PCAT7   PCSK5   PGAP4   PGM5   PHF2   PIP5K1B   PLPPR1   PPP3R2   PRKACG   PRSS47   PRUNE2   PRXL2C   PSAT1   PTAR1   PTCH1   PTCSC2   PTPDC1   RASEF   RFK   RMI1   RNF20   ROR2   RORB   RORB-AS1   S1PR3   SEC61B   SECISBP2   SEMA4D   SHC3   SLC28A3   SLC35D2   SLC44A1   SMC2   SMC2-AS1   SMC5   SMC5-AS1   SNORA84   SPATA31C1   SPATA31C2   SPATA31D1   SPATA31D3   SPATA31D4   SPATA31E1   SPIN1   SPTLC1   STX17   STX17-AS1   SUGT1P4-STRA6LP-CCDC180   SUSD3   SYK   TAL2   TBC1D2   TDRD7   TEX10   TGFBR1   TJP2   TLE1   TLE4   TMC1   TMEFF1   TMEM246-AS1   TMEM252   TMEM252-DT   TMEM38B   TMOD1   TRIM14   TRMO   TRPM3   TRPM6   TSTD2   TUT7   UBQLN1   VPS13A   VPS13A-AS1   WNK2   XPA   ZFAND5   ZNF169   ZNF189   ZNF367   ZNF484   ZNF510   ZNF782  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_68420430)_(106579493_?)dup
NC_000009.11:g.(?_71130848)_(109341774_?)dup
NC_000009.10:g.(?_70225166)_(108381595_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38968,420,430 - 106,579,493CLINVAR
GRCh37971,130,848 - 109,341,774 (+)CLINVAR
Build 36970,225,166 - 108,381,595CLINVAR
Cytogenetic Map99q21.11-31.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484349
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.