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Variant : CV625919 (GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3) Homo sapiens

Symbol: CV625919
Name: GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3
Condition: See cases [RCV000790566]
Clinical Significance: pathogenic
Last Evaluated: 07/12/2018
Review Status: criteria provided, single submitter
Related Genes: ACAP2   APOD   ATP13A3   ATP13A4   ATP13A5   BDH1   CCDC50   CEP19   CLDN1   CLDN16   CPN2   DLG1   FAM43A   FBXO45   FGF12   FYTTD1   GMNC   GP5   HES1   IL1RAP   IQCG   LMLN   LPP   LRCH3   LRRC15   LSG1   MB21D2   MELTF   MIR28   MIR570   MUC20   MUC4   NCBP2   NRROS   OPA1   OSTN   P3H2   PAK2   PCYT1A   PIGX   PIGZ   PLAAT1   PPP1R2   PYDC2   RNF168   RPL35A   RUBCN   SENP5   SLC51A   SMCO1   TCTEX1D2   TFRC   TM4SF19   TMEM207   TMEM44   TNK2   TNK2-AS1   TP63   TPRG1   UBXN7   UTS2B   WDR53   XXYLT1   ZDHHC19  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh373188,386,566 - 197,838,262CLINVAR
Cytogenetic Map33q28-29CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14698321
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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