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Variant : CV160688 (GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3) Homo sapiens

Symbol: CV160688
Name: GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3
Condition: See cases [RCV000139729]
Clinical Significance: pathogenic
Last Evaluated: 07/05/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABRACL   AFG1L   AHI1   AK9   AKAP7   AKIRIN2   ALDH8A1   AMD1   ANKRD6   ARFGEF3   ARG1   ARHGAP18   ARMC2   ARMC2-AS1   ASCC3   ASF1A   ATG5   BACH2   BCKDHB   BCLAF1   BEND3   BVES   BVES-AS1   C6orf163   C6orf58   CALHM4   CALHM5   CALHM6   CASC6   CASP8AP2   CCDC28A   CCDC28A-AS1   CCN2   CCN6   CCNC   CD164   CD24   CDC40   CDK19   CENPW   CEP162   CEP57L1   CEP85L   CFAP206   CGA   CITED2   CLVS2   CNR1   COL10A1   COL12A1   COQ3   COX7A2   CRYBG1   CT69   CTAGE9   CYB5R4   DCBLD1   DDO   DOP1A   DSE   ECHDC1   ECT2L   ELOVL4   ENPP1   ENPP3   EPB41L2   EPHA7   EYA4   FABP7   FAM162B   FAM184A   FAM229B   FAXC   FBXL4   FHL5   FIG4   FILIP1   FILNC1   FOXO3   FRK   FUT9   FYN   GABRR1   GABRR2   GJA1   GJA10   GJB7   GOPC   GPR6   GPR63   GPRC6A   GRIK2   GTF3C6   HACE1   HBS1L   HDAC2   HDAC2-AS2   HDDC2   HEBP2   HECA   HEY2   HINT3   HMGN3   HMGN3-AS1   HS3ST5   HSF2   HTR1B   HTR1E   IBTK   IFNGR1   IL20RA   IL22RA2   IMPG1   IRAK1BP1   KIAA0408   KLHL32   KPNA5   L3MBTL3   LAMA2   LAMA4   LAMA4-AS1   LCA5   LCAL1   LIN28B   LIN28B-AS1   LINC00222   LINC00271   LINC00326   LINC01010   LINC01013   LINC01312   LINC01526   LINC01590   LINC01611   LINC01621   LINC01625   LINC02518   LINC02523   LINC02526   LINC02527   LINC02528   LINC02531   LINC02532   LINC02534   LINC02535   LINC02539   LINC02540   LINC02541   LINC02542   LINC02836   LINC02880   LYRM2   MAN1A1   MANEA   MANEA-DT   MAP3K5   MAP3K5-AS1   MAP3K7   MAP7   MARCKS   MCHR2   MCHR2-AS1   MCM9   MDN1   ME1   MED23   MEI4   METTL24   MFSD4B   MICAL1   MIR10524   MIR2113   MIR3144   MIR3145   MIR3662   MIR3668   MIR4463   MIR4464   MIR4465   MIR4643   MIR548A2   MIR548AI   MIR548AJ1   MIR548B   MIR548H5   MIR587   MIR588   MMS22L   MOXD1   MRAP2   MROCKI   MTFR2   MTRES1   MYB   MYO6   NCOA7   NCOA7-AS1   NDUFAF4   NHSL1   NKAIN2   NR2E1   NT5DC1   NT5E   NUS1   OLIG3   OR2A4   ORC3   OSTM1   OSTM1-AS1   PBOV1   PDE7B   PDSS2   PERP   PEX7   PGM3   PHIP   PKIB   PLN   PM20D2   PNISR   PNRC1   POPDC3   POU3F2   PPIL6   PRDM1   PRDM13   PREP   PRSS35   PTPRK   QRSL1   RARS2   REPS1   REV3L   RFPL4B   RFX6   RIPPLY2   RNF146   RNF217   RNF217-AS1   RNGTT   ROS1   RPF2   RPS12   RRAGD   RSPH4A   RSPO3   RTN4IP1   RWDD1   RWDD2A   SAMD3   SCML4   SEC63   SENP6   SERINC1   SESN1   SGK1   SH3BGRL2   SIM1   SLC16A10   SLC18B1   SLC22A16   SLC2A12   SLC35A1   SLC35D3   SLC35F1   SMIM28   SMIM8   SMLR1   SMPD2   SMPDL3A   SNAP91   SNHG5   SNORA33   SNORA40C   SNORD100   SNORD101   SNORD156   SNORD166   SNORD50A   SNORD50B   SNX14   SNX3   SOBP   SOGA3   SPACA1   SRSF12   STX7   SYNCRIP   TAAR1   TAAR2   TAAR5   TAAR6   TAAR8   TAAR9   TARID   TBC1D32   TBPL1   TBX18   TBX18-AS1   TCF21   TENT5A   THEMIS   TMEM200A   TMEM244   TMEM30A   TNFAIP3   TPBG   TPD52L1   TRAF3IP2   TRAF3IP2-AS1   TRAPPC3L   TRDN   TRDN-AS1   TRE-CTC1-7   TRMT11   TSPYL1   TSPYL4   TSTD3   TTK   TUBE1   TXLNB   UBE2J1   UBE3D   UFL1   UFL1-AS1   USP45   VGLL2   VNN1   VNN2   VNN3   WAKMAR2   WASF1   ZBTB24   ZNF292   ZUP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_74382807)_(142040500_?)dup
NC_000006.11:g.(?_75092523)_(142361637_?)dup
NC_000006.10:g.(?_75149243)_(142403330_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38674,382,807 - 142,040,500CLINVAR
GRCh37675,092,523 - 142,361,637CLINVAR
Build 36675,149,243 - 142,403,330CLINVAR
Cytogenetic Map66q13-24.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487259
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.