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Variant : CV71907 (GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3) Homo sapiens

Symbol: CV71907
Name: GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050995]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050995]|See cases [RCV000050995]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAM18   ADAM2   ADAM32   ADAM9   ADGRA2   ADRB3   ANK1   AP3M2   ASH2L   BAG4   BRF2   C8orf86   CEBPD   CHRNA6   CHRNB3   DCTN6   DDHD2   DKK4   DUSP26   EIF4EBP1   ERLIN2   FGFR1   FNTA   FUT10   GINS4   GOLGA7   GOT1L1   GPAT4   GSR   GTF2E2   HGSNAT   HOOK3   HTRA4   IDO1   IDO2   IGLV8OR8-1   IKBKB   KAT6A   KCNU1   LEPROTL1   LETM2   LINC00293   LINC00589   LINC01288   LINC01605   LINC02099   LINC02209   LINC02866   LSM1   MAK16   MBOAT4   MCM4   MIR3148   MIR4469   MIR486-1   MIR486-2   MIR548AO   NKX6-3   NRG1   NRG1-IT1   NRG1-IT3   NSD3   PLAT   PLEKHA2   PLPBP   PLPP5   POLB   POMK   POTEA   PPP2CB   PRKDC   PURG   RAB11FIP1   RBPMS   RBPMS-AS1   RNF122   RNF170   SARAF   SFRP1   SIRLNT   SLC20A2   SMIM18   SMIM19   SNORD13   SNORD38D   SNORD65B   SPIDR   STAR   TACC1   TCIM   TEX15   THAP1   TM2D2   TTI2   UBE2V2   UBXN8   UNC5D   VDAC3   WRN   ZMAT4   ZNF703  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_29719897)_(48521849_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38829,719,897 - 48,521,849CLINVAR
GRCh37829,577,413 - 49,434,409CLINVAR
Build 36829,633,332 - 49,596,962CLINVAR
Cytogenetic Map88p12-q11.21CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8618046
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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