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Variant : CV42941 (GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3) Homo sapiens

Symbol: CV42941
Name: GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3
Condition: Coloboma [RCV000050294]|Congenital ocular coloboma [RCV000050294]|See cases [RCV000050294]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: ADAM18   ADAM2   ADAM28   ADAM32   ADAM7   ADAM9   ADAMDEC1   ADGRA2   ADRA1A   ADRB3   ANK1   ASAH1   ASH2L   ATP6V1B2   BAG4   BIN3   BIN3-IT1   BMP1   BNIP3L   BRF2   C8orf48   C8orf58   C8orf86   CCAR2   CCDC25   CDCA2   CHMP7   CHRNA2   CLU   CNOT7   CSGALNACT1   DCTN6   DDHD2   DLC1   DMTN   DOCK5   DOK2   DPYSL2   DUSP26   DUSP4   EBF2   EGR3   EIF4EBP1   ELP3   ENTPD4   EPHX2   ERLIN2   ESCO2   EXTL3   EXTL3-AS1   FAM160B2   FBXO16   FGF17   FGF20   FGFR1   FGL1   FUT10   FZD3   GFRA2   GINS4   GNRH1   GOLGA7   GOT1L1   GPAT4   GSR   GTF2E2   HMBOX1   HR   HTRA4   IDO1   IDO2   INTS10   INTS9   KAT6A   KCNU1   KCTD9   KIF13B   LEPROTL1   LETM2   LGI3   LINC00589   LINC00681   LINC01288   LINC01605   LINC02099   LINC02153   LINC02209   LINC02866   LONRF1   LOXL2   LPL   LSM1   LZTS1   LZTS1-AS1   MAK16   MBOAT4   MICU3   MIR3148   MIR320A   MIR3622A   MIR3622B   MIR383   MIR3926-1   MIR3926-2   MIR4287   MIR4288   MIR486-1   MIR486-2   MIR548AO   MIR548H4   MIR548V   MIR5692A2   MIR6841   MIR6842   MIR6843   MIR6876   MSR1   MTMR7   MTUS1   NAT1   NAT2   NEFL   NEFM   NKX2-6   NKX3-1   NKX6-3   NPM2   NRG1   NRG1-IT1   NRG1-IT3   NSD3   NUDT18   NUGGC   PBK   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PIWIL2   PLEKHA2   PLPBP   PLPP5   PNMA2   PNOC   POLR3D   PPP2CB   PPP2R2A   PPP3CC   PSD3   PTK2B   PURG   R3HCC1   RAB11FIP1   RBPMS   RBPMS-AS1   REEP4   RHOBTB2   RNF122   SARAF   SCARA3   SCARA5   SFRP1   SFTPC   SGCZ   SH2D4A   SIRLNT   SLC18A1   SLC25A37   SLC39A14   SLC7A2   SMIM18   SNORD13   SNORD38D   SNORD3F   SNORD65B   SORBS3   STAR   STC1   STMN4   TACC1   TCIM   TEX15   TM2D2   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TRIM35   TRMT9B   TTI2   TUSC3   UBXN8   UNC5D   VPS37A   WRN   XPO7   ZDHHC2   ZMAT4   ZNF395   ZNF703  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_12609975)_(42085703_?)dup
NC_000008.10:g.(?_12467484)_(41943221_?)dup
NC_000008.9:g.(?_12511855)_(42062378_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38812,609,975 - 42,085,703CLINVAR
GRCh37812,467,484 - 41,943,221CLINVAR
Build 36812,511,855 - 42,062,378CLINVAR
Cytogenetic Map88p23.1-11.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617570
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.