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Variant : CV381254 (GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3) Homo sapiens

Symbol: CV381254
Name: GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3
Condition: See cases [RCV000448273]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABHD4   ACIN1   ADCY4   AJUBA   AKAP6   ANG   AP1G2   AP4S1   APEX1   ARHGAP5   ARHGEF40   BCL2L2   BCL2L2-PABPN1   C14orf119   C14orf93   CARMIL3   CBLN3   CCNB1IP1   CDH24   CEBPE   CHD8   CHMP4A   CIDEB   CMA1   CMTM5   COCH   CPNE6   CTSG   DAD1   DCAF11   DHRS1   DHRS2   DHRS4   DHRS4L1   DHRS4L2   DTD2   EDDM3A   EDDM3B   EFS   EMC9   FITM1   FOXG1   G2E3   GMPR2   GPR33   GZMB   GZMH   HAUS4   HEATR5A   HECTD1   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   NPAS3   NRL   NUBPL   NYNRIN   OR10G2   OR10G3   OR11G2   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   POTEM   PPP1R3E   PRKD1   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   SCFD1   SDR39U1   SLC22A17   SLC39A2   SLC7A7   SLC7A8   STRN3   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)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371419,794,561 - 34,049,214CLINVAR
Cytogenetic Map1414q11.2-13.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12852983
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.