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Variant : CV160371 (GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3) Homo sapiens

Symbol: CV160371
Name: GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3
Condition: See cases [RCV000139446]
Clinical Significance: pathogenic
Last Evaluated: 07/25/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AAMP   ABCA12   ABCB6   ABI2   ACADL   ACSL3   ACSL3-AS1   ADAM23   ALS2   ANKAR   ANKRD44   ANKRD44-AS1   ANKRD44-IT1   ANKZF1   AOX1   AP1S3   ARPC2   ASDURF   ASIC4   ASIC4-AS1   ASNSD1   ATG9A   ATIC   BARD1   BCS1L   BMPR2   BOLL   BZW1   BZW1-AS1   C2CD6   C2orf66   C2orf69   C2orf80   C2orf88   CALCRL   CARF   CASP10   CASP8   CATIP   CATIP-AS1   CATIP-AS2   CAVIN2   CAVIN2-AS1   CCDC140   CCDC150   CCNYL1   CD28   CDK15   CDK5R2   CERKL   CFAP65   CFLAR   CFLAR-AS1   CHPF   CLK1   CNOT9   CNPPD1   COL3A1   COL5A2   COQ10B   CPO   CPS1   CPS1-IT1   CREB1   CRYBA2   CRYGA   CRYGB   CRYGC   CRYGD   CT75   CTDSP1   CTLA4   CXCR1   CXCR2   CYP20A1   CYP27A1   DES   DIRC1   DIRC3   DIRC3-AS1   DNAH7   DNAJB2   DNAJC10   DNPEP   DUSP19   DYTN   EEF1B2   EPHA4   ERBB4   FAM117B   FAM126B   FAM171B   FAM237A   FARSB   FASTKD2   FEV   FLACC1   FN1   FRZB   FSIP2   FSIP2-AS1   FSIP2-AS2   FTCDNL1   FZD5   FZD7   GLB1L   GLS   GMPPA   GPBAR1   GPR1   GPR1-AS   GTF3C3   GULP1   HECW2   HECW2-AS1   HIBCH   HSPD1   HSPE1   HSPE1-MOB4   ICA1L   ICOS   IDH1   IDH1-AS1   IGFBP2   IGFBP5   IHH   IKZF2   INHA   INO80D   INPP1   ITGA4   ITGAV   ITPRID2   KANSL1L   KANSL1L-AS1   KCNE4   KCTD18   KIAA2012   KIAA2012-AS1   KLF7   LANCL1   LANCL1-AS1   LINC00607   LINC00608   LINC01090   LINC01280   LINC01473   LINC01494   LINC01614   LINC01790   LINC01792   LINC01802   LINC01803   LINC01821   LINC01827   LINC01857   LINC01877   LINC01878   LINC01921   LINC01923   LINC01934   LINC01953   LINC01963   LINC02832   MAIP1   MAP2   MARCHF4   MARS2   MDH1B   METTL21A   MFSD6   MIR1245A   MIR1245B   MIR1302-4   MIR153-1   MIR2355   MIR26B   MIR3129   MIR3130-1   MIR3130-2   MIR3131   MIR3132   MIR3606   MIR375   MIR4268   MIR4437   MIR4438   MIR4775   MIR4776-1   MIR4776-2   MIR548AE1   MIR548F2   MIR561   MIR6513   MIR6809   MIR6810   MIR7845   MIR9500   MOB4   MOGAT1   MPP4   MREG   MRPL44   MSTN   MYL1   MYO1B   MYOSLID   MYOSLID-AS1   NAB1   NABP1   NBEAL1   NCKAP1   NDUFB3   NDUFS1   NEMP2   NEUROD1   NHEJ1   NIF3L1   NOP58   NRP2   NUP35   OBSL1   ORC2   ORMDL1   OSGEPL1   OSGEPL1-AS1   PARD3B   PAX3   PCGEM1   PDE1A   PECR   PGAP1   PIKFYVE   PLCD4   PLCL1   PLEKHM3   PMS1   PNKD   PPIL3   PPP1R1C   PRKAG3   PTH2R   PTPRN   RAPH1   RESP18   RETREG2   RFTN2   RNF25   RPE   RPL37A   RUFY4   SATB2   SATB2-AS1   SCG2   SCHLAP1   SERPINE2   SF3B1   SGO2   SGPP2   SLC11A1   SLC23A3   SLC39A10   SLC40A1   SLC4A3   SMARCAL1   SNHG31   SNORA105B   SNORA115   SNORA41   SNORA70I   SNORD11   SNORD11B   SNORD51   SNORD70   SNORD70B   SPAG16   SPAG16-DT   SPATS2L   SPEG   SPEGNB   STAT1   STAT4   STK11IP   STK16   STK17B   STK36   STRADB   SUMO1   TFPI   TMBIM1   TMEFF2   TMEM169   TMEM198   TMEM237   TNP1   TNS1   TRAK2   TRY-ATA1-1   TTLL4   TUBA4A   TUBA4B   TYW5   UBE2E3   UNC80   USP37   VIL1   VWC2L   VWC2L-IT1   WDFY1   WDR12   WDR75   WNT10A   WNT6   XRCC5   ZC3H15   ZDBF2   ZFAND2B   ZNF142   ZNF804A   ZSWIM2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_180513793)_(224302848_?)dup
NC_000002.11:g.(?_181378520)_(225167565_?)dup
NC_000002.10:g.(?_181086765)_(224875809_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382180,513,793 - 224,302,848CLINVAR
GRCh372181,378,520 - 225,167,565CLINVAR
Build 362181,086,765 - 224,875,809CLINVAR
Cytogenetic Map22q31.3-36.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486977
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.