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Variant : CV73710 (GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3) Homo sapiens

Symbol: CV73710
Name: GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3
Condition: Seizure [RCV000052913]|See cases [RCV000052913]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AP2S1   ARHGAP35   BAX   BBC3   BCAT2   BICRA   BSPH1   C5AR1   C5AR2   CA11   CABP5   CARD8   CARD8-AS1   CCDC114   CCDC9   CGB1   CGB2   CGB3   CGB5   CGB8   CRX   CYTH2   DACT3   DACT3-AS1   DBP   DHDH   DHX34   EHD2   ELSPBP1   EMP3   FAM83E   FGF21   FKRP   FTL   FUT1   FUT2   GRIN2D   GRWD1   GYS1   HSD17B14   INAFM1   IZUMO1   KCNJ14   KDELR1   KPTN   LHB   LIG1   LINC01595   LMTK3   MAMSTR   MEIS3   MIR3190   MIR3191   MIR320E   MIR6798   NAPA   NAPA-AS1   NOP53   NOP53-AS1   NPAS1   NTN5   NUCB1   NUCB1-AS1   PLA2G4C   PLA2G4C-AS1   PLEKHA4   PPP1R15A   PRKD2   RASIP1   RPL18   RUVBL2   SAE1   SELENOW   SLC1A5   SLC8A2   SNAR-A1   SNAR-A12   SNAR-A13   SNAR-A2   SNAR-A3   SNAR-C1   SNAR-C2   SNAR-C3   SNAR-C4   SNAR-C5   SNAR-E   SNAR-G1   SNAR-G2   SNORD23   SPACA4   SPHK2   STRN4   SULT2A1   SULT2B1   SYNGR4   TMEM143   TMEM160   TPRX1   TULP2   ZC3H4   ZNF114   ZNF541   ZSWIM9  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_46658791)_(49050450_?)dup
NC_000019.9:g.(?_47162048)_(49553707_?)dup
NC_000019.8:g.(?_51853888)_(54245519_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381946,658,791 - 49,050,450CLINVAR
GRCh371947,162,048 - 49,553,707CLINVAR
Build 361951,853,888 - 54,245,519CLINVAR
Cytogenetic Map1919q13.32-13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619883
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.