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Variant : CV597737 (GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3) Homo sapiens

Symbol: CV597737
Name: GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3
Condition: not provided [RCV000743037]
Clinical Significance: pathogenic
Last Evaluated: 08/22/2014
Review Status: no assertion criteria provided
Related Genes: ACAP2   ADIPOQ   APOD   ATP13A3   ATP13A4   ATP13A5   BCL6   BDH1   CCDC50   CEP19   CLDN1   CLDN16   CPN2   DLG1   EIF4A2   FAM43A   FBXO45   FGF12   FYTTD1   GMNC   GP5   HES1   HRG   IL1RAP   IQCG   KNG1   LMLN   LPP   LRCH3   LRRC15   LSG1   MASP1   MB21D2   MELTF   MIR28   MIR570   MUC20   MUC4   NCBP2   NRROS   OPA1   OSTN   P3H2   PAK2   PCYT1A   PIGX   PIGZ   PLAAT1   PPP1R2   PYDC2   RFC4   RNF168   RPL35A   RPL39L   RTP1   RTP2   RTP4   RUBCN   SENP5   SLC51A   SMCO1   SNORA63   SNORA81   SST   ST6GAL1   TCTEX1D2   TFRC   TM4SF19   TMEM207   TMEM44   TNK2   TNK2-AS1   TP63   TPRG1   UBXN7   UTS2B   WDR53   XXYLT1   ZDHHC19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh373186,374,671 - 197,838,262CLINVAR
Cytogenetic Map33q27.3-29CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14358408
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-01-21
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.