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Variant : CV607575 (GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3) Homo sapiens

Symbol: CV607575
Name: GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3
Condition: not provided [RCV000752875]
Clinical Significance: pathogenic
Last Evaluated: 07/15/2016
Review Status: no assertion criteria provided
Related Genes: ABCG5   ABCG8   ABHD1   ADCY3   ADGRF3   AGBL5   ALK   ARHGEF33   ASXL2   ATAD2B   ATL2   ATP6V1E2   ATRAID   BABAM2   BCYRN1   BIRC6   C2orf16   C2orf91   CAD   CALM2   CAMKMT   CAPN13   CAPN14   CCDC121   CDC42EP3   CDKL4   CEBPZ   CENPA   CENPO   CGREF1   CIB4   CLIP4   COX7A2L   CRIM1   CRIPT   CYP1B1   DHX57   DNAJC27   DNAJC5G   DNMT3A   DPY30   DPYSL5   DRC1   DTNB   DYNC2LI1   EFR3B   EHD3   EIF2AK2   EIF2B4   EMILIN1   EML4   EPAS1   EPCAM   FAM166C   FAM228A   FAM228B   FAM98A   FBXO11   FEZ2   FKBP1B   FNDC4   FOSL2   FOXN2   FSHR   GALM   GALNT14   GAREM2   GCKR   GEMIN6   GPATCH11   GPN1   GTF2A1L   GTF3C2   HAAO   HADHA   HADHB   HEATR5B   HNRNPLL   IFT172   ITSN2   KCNG3   KCNK12   KCNK3   KHK   KIF3C   KLHL29   KRTCAP3   LBH   LCLAT1   LHCGR   LRPPRC   LTBP1   MAP4K3   MAPRE3   MCFD2   MEMO1   MFSD2B   MORN2   MPV17   MRPL33   MSH2   MSH2-OT1   MSH6   MTA3   NCOA1   NDUFAF7   NLRC4   NRBP1   NRXN1   OST4   OTOF   OXER1   PCARE   PFN4   PIGF   PKDCC   PLB1   PLEKHH2   POMC   PPM1B   PPM1G   PPP1CB   PPP1R21   PREB   PREPL   PRKCE   PRKD3   PRR30   PTRHD1   QPCT   RAB10   RASGRP3   RBKS   RHOQ   RMDN2   SELENOI   SF3B6   SIX2   SIX3   SLC30A3   SLC30A6   SLC35F6   SLC3A1   SLC4A1AP   SLC5A6   SLC8A1   SNX17   SOCS5   SOS1   SOS1-IT1   SPAST   SPDYA   SRBD1   SRD5A2   SRSF7   STON1   STON1-GTF2A1L   STPG4   STRN   SULT6B1   SUPT7L   TCF23   THADA   THUMPD2   TMEM178A   TMEM214   TMEM247   TOGARAM2   TP53I3   TRIM54   TRMT61B   TTC27   TTC7A   UBXN2A   UCN   VIT   WDCP   WDR43   XDH   YIPF4   YPEL5   ZFP36L2   ZNF512   ZNF513  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37222,665,048 - 52,850,368CLINVAR
Cytogenetic Map22p24.1-16.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14349375
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-03-24
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.