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Variant : CV802903 (GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3) Homo sapiens

Symbol: CV802903
Name: GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3
Condition: not provided [RCV001005683]
Clinical Significance: pathogenic
Last Evaluated: 07/02/2018
Review Status: no assertion criteria provided
Related Genes: ACOT12   ADGRV1   AGGF1   ANKDD1B   ANKRA2   ANKRD31   ANKRD34B   AP3B1   ARHGEF28   ARRDC3   ARSB   ARSK   ATG10   ATP6AP1L   BHMT   BHMT2   BTF3   CAST   CCNH   CERT1   CETN3   CKMT2   CMYA5   COX7C   CRHBP   DHFR   DMGDH   EDIL3   ELL2   ENC1   ERAP1   ERAP2   F2R   F2RL1   F2RL2   FAM151B   FAM169A   FAM172A   FAM81B   GCNT4   GFM2   GLRX   GPR150   HAPLN1   HEXB   HMGCR   HOMER1   IQGAP2   JMY   KIAA0825   LHFPL2   LIX1   LNPEP   LUCAT1   LYSMD3   MBLAC2   MCTP1   MEF2C   MIR9-2   MSH3   MTRNR2L2   MTX3   NCRUPAR   NR2F1   NSA2   OTP   PCSK1   PDE8B   POC5   POLK   POLR3G   POU5F2   RASA1   RASGRF2   RFESD   RHOBTB3   RIOK2   RPS23   S100Z   SCAMP1   SCARNA18   SERINC5   SLF1   SPATA9   SPZ1   SSBP2   SV2C   TBCA   TENT2   THBS4   TMEM161B   TMEM167A   TTC37   UTP15   VCAN   WDR41   XRCC4   ZBED3   ZCCHC9   ZFYVE16  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37572,790,061 - 97,478,870CLINVAR
Cytogenetic Map55q13.2-15CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 25319768
Created: 2020-04-07
Species: Homo sapiens
Last Modified: 2020-07-07
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.