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Variant : CV554729 (GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3) Homo sapiens

Symbol: CV554729
Name: GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3
Condition: not provided [RCV000683034]
Clinical Significance: pathogenic
Last Evaluated: 04/03/2018
Review Status: no assertion criteria provided
Related Genes: AGPAT5   ANGPT2   ARHGEF10   CLDN23   CLN8   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB4A   DEFB4B   DLGAP2   ERI1   ERICH1   FBXO25   KBTBD11   MCPH1   MFHAS1   MYOM2   PPP1R3B   SPAG11A   SPAG11B   TDRP   TNKS   USP17L1   USP17L3   USP17L4   USP17L8   XKR5   ZNF596   ZNF705B   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh378158,048 - 9,750,676CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13795935
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-05-26
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.