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Variant : CV554734 (GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3) Homo sapiens

Symbol: CV554734
Name: GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3
Condition: not provided [RCV000683039]
Clinical Significance: pathogenic
Last Evaluated: 10/04/2017
Review Status: no assertion criteria provided
Related Genes: AGPAT5   ANGPT2   ARHGEF10   BLK   C8orf48   C8orf74   CLDN23   CLN8   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   GATA4   KBTBD11   LONRF1   MCPH1   MFHAS1   MIR124-1   MSRA   MTMR9   MYOM2   NEIL2   PINX1   PPP1R3B   PRSS51   PRSS55   RP1L1   SGCZ   SLC35G5   SOX7   SPAG11A   SPAG11B   TDRP   TNKS   TRMT9B   USP17L1   USP17L2   USP17L3   USP17L4   USP17L7   USP17L8   XKR5   XKR6   ZNF596   ZNF705B   ZNF705D   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh378158,048 - 13,974,319CLINVAR
Cytogenetic Map88p23.3-22CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 13795940
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


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