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Variant : CV71832 (GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3) Homo sapiens

Symbol: CV71832
Name: GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050904]|See cases [RCV000050904]
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   ADRA1A   ADRB3   ANK1   AP3M2   ASH2L   BAG4   BNIP3L   BRF2   C8orf86   CCDC25   CEBPD   CHRNA2   CHRNA6   CHRNB3   CLU   DCTN6   DDHD2   DKK4   DPYSL2   DUSP26   DUSP4   EBF2   EIF4EBP1   ELP3   EPHX2   ERLIN2   ESCO2   EXTL3   EXTL3-AS1   FBXO16   FGFR1   FNTA   FUT10   FZD3   GINS4   GOLGA7   GOT1L1   GPAT4   GSR   GTF2E2   HGSNAT   HMBOX1   HOOK3   HTRA4   IDO1   IDO2   IGLV8OR8-1   IKBKB   INTS9   KAT6A   KCNU1   KIF13B   LEPROTL1   LETM2   LINC00293   LINC00589   LINC01288   LINC01605   LINC02099   LINC02209   LINC02866   LSM1   MAK16   MBOAT4   MCM4   MIR3148   MIR3622A   MIR3622B   MIR4287   MIR4288   MIR4469   MIR486-1   MIR486-2   MIR548AO   MIR548H4   MIR6842   MIR6843   NKX6-3   NRG1   NRG1-IT1   NRG1-IT3   NSD3   NUGGC   PBK   PLAT   PLEKHA2   PLPBP   PLPP5   PNMA2   PNOC   POLB   POMK   POTEA   PPP2CB   PPP2R2A   PRKDC   PTK2B   PURG   RAB11FIP1   RBPMS   RBPMS-AS1   RNF122   RNF170   SARAF   SCARA3   SCARA5   SFRP1   SIRLNT   SLC20A2   SMIM18   SMIM19   SNORD13   SNORD38D   SNORD65B   SPIDR   STAR   STMN4   TACC1   TCIM   TEX15   THAP1   TM2D2   TRIM35   TTI2   UBE2V2   UBXN8   UNC5D   VDAC3   WRN   ZMAT4   ZNF395   ZNF703  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_25832130)_(48521849_?)dup
NC_000008.10:g.(?_25689646)_(49434409_?)dup
NC_000008.9:g.(?_25745563)_(49596962_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38825,832,130 - 48,521,849CLINVAR
GRCh37825,689,646 - 49,434,409CLINVAR
Build 36825,745,563 - 49,596,962CLINVAR
Cytogenetic Map88p21.2-q11.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617965
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.