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Variant : CV247370 (GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3) Homo sapiens

Symbol: CV247370
Name: GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3
Condition: See cases [RCV000239409]
Clinical Significance: pathogenic
Last Evaluated: 05/03/2016
Review Status: criteria provided, single submitter
Related Genes: AGPAT5   ANGPT2   ARHGEF10   BLK   C8orf74   CLDN23   CLN8   CSMD1   CTSB   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB134   DEFB135   DEFB136   DEFB4A   DEFB4B   DLGAP2   ERI1   ERICH1   FAM167A   FBXO25   FDFT1   GATA4   KBTBD11   MCPH1   MFHAS1   MIR124-1   MSRA   MTMR9   MYOM2   NEIL2   PINX1   PPP1R3B   PRSS51   PRSS55   RP1L1   SLC35G5   SOX7   SPAG11A   SPAG11B   TDRP   TNKS   USP17L1   USP17L3   USP17L4   USP17L8   XKR5   XKR6   ZNF596   ZNF705B   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh378164,984 - 11,860,845CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11531151
Created: 2016-09-01
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.