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Variant : CV164640 (GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3) Homo sapiens

Symbol: CV164640
Name: GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3
Condition: See cases [RCV000142953]
Clinical Significance: pathogenic
Last Evaluated: 08/13/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM30   ADORA3   AHCYL1   AKNAD1   ALX3   AMIGO1   AMPD1   AMPD2   AP4B1   AP4B1-AS1   ATP1A1   ATP1A1-AS1   ATP5PB   ATXN7L2   BCAS2   BCL2L15   C1orf162   C1orf194   CAPZA1   CASQ2   CD101   CD2   CD53   CD58   CELSR2   CEPT1   CHI3L2   CHIA   CLCC1   CSDE1   CSF1   CTTNBP2NL   CYB561D1   CYMP-AS1   DCLRE1B   DDX20   DENND2C   DENND2D   DRAM2   EPS8L3   FAM102B   FNDC7   GDAP2   GNAI3   GNAT2   GPR61   GPSM2   GSTM1   GSTM2   GSTM3   GSTM4   GSTM5   HAO2   HAO2-IT1   HENMT1   HIPK1   HIPK1-AS1   HMGCS2   HSD3B1   HSD3B2   IGSF3   INKA2   INKA2-AS1   KCNA10   KCNA2   KCNA3   KCNC4   KCND3   KCND3-AS1   KCND3-IT1   KIAA1324   LAMTOR5   LAMTOR5-AS1   LINC00622   LINC01160   LINC01356   LINC01357   LINC01397   LINC01525   LINC01649   LINC01661   LINC01676   LINC01677   LINC01750   LINC01762   LINC01780   LINC02586   LINC02868   LRIF1   LRIG2   LRIG2-DT   MAB21L3   MAGI3   MAN1A2   MIR11399   MIR197   MIR320B1   MIR4256   MIR548AC   MIR7852   MIR942   MOV10   MYBPHL   NBPF4   NBPF6   NBPF7   NGF   NGF-AS1   NHLH2   NOTCH2   NRAS   NTNG1   OLFML3   OVGP1   PHGDH   PHTF1   PIFO   PPM1J   PRMT6   PROK1   PRPF38B   PSMA5   PSRC1   PTGFRN   PTPN22   RAP1A   RBM15   RBM15-AS1   REG4   RHOC   RSBN1   SARS1   SCARNA2   SIKE1   SLC16A1   SLC16A1-AS1   SLC16A4   SLC22A15   SLC25A24   SLC6A17   SORT1   SPAG17   SPATA42   ST7L   STRIP1   STXBP3   SYCP1   SYPL2   SYT6   TAF13   TAFA3   TBX15   TENT5C   TMEM167B   TMIGD3   TRIM33   TRIM45   TSHB   TSPAN2   TTF2   UBL4B   VANGL1   VAV3   VAV3-AS1   VTCN1   WARS2   WARS2-AS1   WARS2-IT1   WDR3   WDR47   WDR77   WNT2B   ZNF697  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_104325484)_(119977655_?)dup
NC_000001.10:g.(?_104868106)_(120471049_?)dup
NC_000001.9:g.(?_104669629)_(120321801_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381104,325,484 - 119,977,655CLINVAR
GRCh371104,868,106 - 120,471,049 (+)CLINVAR
Build 361104,669,629 - 120,321,801CLINVAR
Cytogenetic Map11p21.1-12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490551
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.