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Variant : CV163474 (GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3) Homo sapiens

Symbol: CV163474
Name: GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3
Condition: See cases [RCV000142010]
Clinical Significance: uncertain significance
Last Evaluated: 08/19/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: A4GNT   ABTB1   AC010210.1   AC046134.2   ACAD11   ACAD9   ACKR4   ACP3   ALDH1L1   ALDH1L1-AS1   ALDH1L1-AS2   ALG1L2   AMOTL2   ANAPC13   ARMC8   ASTE1   ATP2C1   BFSP2   BFSP2-AS1   BPESC1   C3orf22   C3orf36   C3orf56   CCDC37-DT   CDV3   CEP63   CEP70   CFAP100   CFAP92   CHCHD6   CHST13   CLDN18   CLSTN2   CLSTN2-AS1   CNBP   COL6A5   COL6A6   COPB2   COPG1   CPNE4   DBR1   DNAJB8   DNAJB8-AS1   DNAJC13   DZIP1L   EEFSEC   EFCAB12   EFCC1   EPHB1   ESYT3   FAIM   FOXL2   FOXL2NB   GATA2   GATA2-AS1   GP9   H1-10   H1-10-AS1   H1-8   HMCES   IFT122   IL20RB   IL20RB-AS1   ISY1   ISY1-RAB43   KBTBD12   KLF15   KY   LINC01210   LINC01391   LINC01471   LINC01565   LINC02000   LINC02004   LINC02014   LINC02016   LINC02021   MBD4   MCM2   MGLL   MIR12124   MIR4788   MIR5704   MIR6825   MIR6826   MIR6827   MIR7976   MRAS   MRPL3   MRPS22   MSL2   NCK1   NCK1-DT   NEK11   NME9   NMNAT3   NPHP3   NPHP3-ACAD11   NPHP3-AS1   NUDT16   PCCB   PIK3CB   PIK3R4   PISRT1   PLXNA1   PLXND1   PODXL2   PPP2R3A   PRR20G   PRR23A   PRR23B   PRR23C   RAB43   RAB6B   RAB7A   RBP1   RBP2   RHO   RPN1   RUVBL1   RUVBL1-AS1   RYK   SEC61A1   SLC35G2   SLCO2A1   SNORA58   SNORA7B   SOX14   SRPRB   STAG1   TF   TMCC1   TMCC1-AS1   TMEM108   TMEM108-AS1   TOPBP1   TPRA1   TRC-GCA6-1   TRC-GCA9-1   TRH   TRIM42   TXNRD3   UBA5   UROC1   ZXDC  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_126106779)_(140918089_?)dup
Human AssemblyChrPosition (strand)Source
GRCh383126,106,779 - 140,918,089CLINVAR
GRCh373125,825,622 - 140,636,931CLINVAR
Build 363127,308,312 - 142,119,621CLINVAR
Cytogenetic Map33q21.3-23CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489530
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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