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Variant : CV614118 (GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)) Homo sapiens

Symbol: CV614118
Name: GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)
Condition: not provided [RCV000767822]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ABHD4   ACIN1   ADCY4   AJUBA   ANG   AP1G2   APEX1   ARHGEF40   BCL2L2   BCL2L2-PABPN1   C14orf119   C14orf93   CARMIL3   CBLN3   CCNB1IP1   CDH24   CEBPE   CHD8   CHMP4A   CIDEB   CMA1   CMTM5   CPNE6   CTSG   DAD1   DCAF11   DHRS1   DHRS2   DHRS4   DHRS4L1   DHRS4L2   EDDM3A   EDDM3B   EFS   EMC9   FITM1   GMPR2   GZMB   GZMH   HAUS4   HNRNPC   HOMEZ   IL25   IPO4   IRF9   JPH4   KHNYN   KLHL33   LINC00596   LRP10   LTB4R   LTB4R2   MDP1   METTL17   METTL3   MIR208A   MIR208B   MMP14   MRPL52   MYH6   MYH7   NDRG2   NEDD8   NEDD8-MDP1   NFATC4   NGDN   NOP9   NOVA1   NRL   NYNRIN   OR10G2   OR10G3   OR11G2   OR11H12   OR11H2   OR11H4   OR11H6   OR4E2   OR4K1   OR4K13   OR4K14   OR4K15   OR4K17   OR4K2   OR4K5   OR4L1   OR4M1   OR4N2   OR4N5   OR4Q3   OR5AU1   OR6S1   OSGEP   OXA1L   PABPN1   PARP2   PCK2   PIP4P1   PNP   POTEG   POTEM   PPP1R3E   PRMT5   PSMB11   PSMB5   PSME1   PSME2   RAB2B   RABGGTA   RBM23   REC8   REM2   RIPK3   RNASE1   RNASE10   RNASE11   RNASE12   RNASE13   RNASE2   RNASE3   RNASE4   RNASE6   RNASE7   RNASE8   RNASE9   RNF212B   RNF31   RPGRIP1   RPPH1   SALL2   SDR39U1   SLC22A17   SLC39A2   SLC7A7   SLC7A8   STXBP6   SUPT16H   TEP1   TGM1   THTPA   TINF2   TM9SF1   TMEM253   TOX4   TPPP2   TRA   TRL-AAG2-3   TRP-AGG2-5   TRP-AGG2-6   TRT-TGT3-1   TSSK4   TTC5   ZFHX2   ZNF219  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371419,100,682 - 28,730,087CLINVAR
Cytogenetic Map1414q11.2-12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399301
Created: 2019-05-07
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.