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Variant : CV160521 (GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3) Homo sapiens

Symbol: CV160521
Name: GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3
Condition: See cases [RCV000139582]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM18   ADAM2   ADAM32   ADAM9   ADGRA2   ADRB3   ALKAL1   ANK1   AP3M2   ASH2L   ATP6V1H   BAG4   BPNT2   BRF2   C8orf86   CEBPD   CERNA3   CHCHD7   CHRNA6   CHRNB3   CYP7A1   DDHD2   DKK4   EFCAB1   EIF4EBP1   ERLIN2   FAM110B   FGFR1   FNTA   GINS4   GOLGA7   GOT1L1   GPAT4   HGSNAT   HOOK3   HTRA4   IDO1   IDO2   IGLV8OR8-1   IKBKB   KAT6A   KCNU1   LETM2   LINC00293   LINC00588   LINC00968   LINC01602   LINC01605   LINC01606   LINC02847   LINC02866   LSM1   LYN   LYPLA1   MCM4   MIR4469   MIR486-1   MIR486-2   MIR548AO   MOS   MRPL15   NKX6-3   NPBWR1   NSD3   NSMAF   OPRK1   PCMTD1   PENK   PLAG1   PLAT   PLEKHA2   PLPBP   PLPP5   POLB   POMK   POTEA   PPDPFL   PRKDC   PXDNL   RAB11FIP1   RB1CC1   RGS20   RNF170   RNU105C   RP1   RPS20   SDCBP   SDR16C5   SFRP1   SIRLNT   SLC20A2   SMIM19   SNAI2   SNORA1B   SNORD38D   SNORD54   SNORD65B   SNTG1   SOX17   SPIDR   ST18   STAR   TACC1   TCEA1   TCIM   TGS1   THAP1   TM2D2   TMEM68   TOX   UBE2V2   UBXN2B   VDAC3   XKR4   ZMAT4   ZNF703  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_36580103)_(59618998_?)dup
NC_000008.10:g.(?_36437621)_(60531557_?)dup
NC_000008.9:g.(?_36556779)_(60694111_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38836,580,103 - 59,618,998CLINVAR
GRCh37836,437,621 - 60,531,557CLINVAR
Build 36836,556,779 - 60,694,111CLINVAR
Cytogenetic Map88p12-q12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9487113
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
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.