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Variant : CV676636 (GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3) Homo sapiens

Symbol: CV676636
Name: GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3
Condition: not provided [RCV000849735]
Clinical Significance: pathogenic
Last Evaluated: 04/25/2017
Review Status: no assertion criteria provided
Related Genes: AAR2   ACSS2   ACTL10   AHCY   ASIP   ASXL1   BCL2L1   BPIFA1   BPIFA2   BPIFA3   BPIFB1   BPIFB2   BPIFB3   BPIFB4   BPIFB6   C20orf144   C20orf173   C20orf203   CBFA2T2   CCM2L   CDK5RAP1   CEP250   CHMP4B   CNBD2   COMMD7   COX4I2   CPNE1   DEFB115   DEFB116   DEFB118   DEFB119   DEFB121   DEFB123   DEFB124   DLGAP4   DNMT3B   DUSP15   DYNLRB1   E2F1   EDEM2   EFCAB8   EIF2S2   EIF6   EPB41L1   ERGIC3   FAM83C   FOXS1   GDF5   GDF5-AS1   GGT7   GSS   HCK   HM13   ID1   ITCH   KIF3B   MAP1LC3A   MAPRE1   MIR499A   MMP24   MYH7B   MYLK2   NCOA6   NECAB3   NFS1   NOL4L   PDRG1   PHF20   PIGU   PLAGL2   POFUT1   PROCR   PXMP4   RALY   RBM12   RBM39   REM1   ROMO1   SCAND1   SNTA1   SPAG4   SUN5   TM9SF4   TP53INP2   TPX2   TRPC4AP   TTLL9   UQCC1   XKR7   ZNF341  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372029,833,608 - 35,087,952CLINVAR
Cytogenetic Map2020q11.21-11.23CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14981233
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-09-22
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.