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Variant : CV381549 (GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4) Homo sapiens

Symbol: CV381549
Name: GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4
Condition: See cases [RCV000448695]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AGPAT5   ANGPT2   ARHGEF10   BLK   C8orf48   C8orf74   CLDN23   CLN8   CNOT7   CSMD1   CTSB   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB130A   DEFB134   DEFB135   DEFB136   DEFB4A   DEFB4B   DLC1   DLGAP2   ERI1   ERICH1   FAM167A   FAM86B1   FAM86B2   FBXO25   FDFT1   FGF20   GATA4   KBTBD11   LONRF1   MCPH1   MFHAS1   MICU3   MIR124-1   MSR1   MSRA   MTMR7   MTMR9   MTUS1   MYOM2   NEIL2   PDGFRL   PINX1   PPP1R3B   PRSS51   PRSS55   RP1L1   SGCZ   SLC35G5   SLC7A2   SOX7   SPAG11A   SPAG11B   TDRP   TNKS   TRMT9B   TUSC3   USP17L1   USP17L2   USP17L3   USP17L4   USP17L7   USP17L8   VPS37A   XKR5   XKR6   ZDHHC2   ZNF596   ZNF705B   ZNF705D   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh378158,991 - 17,536,147CLINVAR
Cytogenetic Map88p23.3-22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12853399
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-06-30
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.