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Variant : CV555515 (GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3) Homo sapiens

Symbol: CV555515
Name: GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3
Condition: not provided [RCV000683820]
Clinical Significance: pathogenic
Last Evaluated: 05/22/2018
Review Status: no assertion criteria provided
Related Genes: AARS1   ACD   ADGRG1   ADGRG3   ADGRG5   AGRP   AMFR   AP1G1   ARL2BP   ATP6V0D1   ATXN1L   B3GNT9   BBS2   BEAN1   C16orf70   C16orf86   CA7   CALB2   CAPNS2   CARMIL2   CBFB   CCDC102A   CCDC113   CCL17   CCL22   CDH1   CDH11   CDH16   CDH3   CDH5   CDH8   CENPT   CES1   CES2   CES3   CES4A   CES5A   CETP   CFAP20   CHST4   CHTF8   CIAO2B   CIAPIN1   CKLF   CKLF-CMTM1   CLEC18A   CLEC18C   CMTM1   CMTM2   CMTM3   CMTM4   CMTR2   CNGB1   CNOT1   COG4   COG8   COQ9   CPNE2   CSNK2A2   CTCF   CTRL   CX3CL1   CYB5B   DDX19A   DDX19B   DDX28   DHODH   DHX38   DOK4   DPEP2   DPEP3   DRC7   DUS2   DYNC1LI2   E2F4   EDC4   ELMO3   ENKD1   ESRP2   EXOC3L1   EXOSC6   FBXL8   FCSK   FHOD1   GFOD2   GINS3   GNAO1   GOT2   HAS3   HERPUD1   HP   HPR   HSD11B2   HSF4   HYDIN   IL34   IRX5   IRX6   IST1   KATNB1   KCTD19   KIAA0895L   KIFC3   LCAT   LPCAT2   LRRC29   LRRC36   MARVELD3   MIR138-2   MIR140   MIR328   MMP15   MMP2   MT1A   MT1B   MT1E   MT1F   MT1G   MT1H   MT1M   MT1X   MT2A   MT3   MT4   MTSS2   NAE1   NDRG4   NFAT5   NFATC3   NIP7   NLRC5   NOB1   NOL3   NQO1   NRN1L   NUDT21   NUP93   NUTF2   OGFOD1   PARD6A   PDF   PDP2   PDPR   PHLPP2   PKD1L3   PLA2G15   PLEKHG4   PLLP   PMFBP1   POLR2C   PRMT7   PRSS54   PSKH1   PSMB10   PSME3IP1   RANBP10   RIPOR1   RRAD   RSPRY1   SETD6   SF3B3   SLC12A3   SLC12A4   SLC38A7   SLC6A2   SLC7A6   SLC7A6OS   SLC9A5   SMPD3   SNTB2   ST3GAL2   TANGO6   TAT   TEPP   TERB1   TERF2   THAP11   TK2   TMED6   TMEM208   TPPP3   TRADD   TSNAXIP1   TXNL4B   USB1   UTP4   VAC14   VPS4A   WWP2   ZDHHC1   ZFP90   ZNF19   ZNF23   ZNF319   ZNF821  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371654,416,050 - 72,453,266CLINVAR
Cytogenetic Map1616q12.2-22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13797882
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.