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Variant : CV554727 (GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1) Homo sapiens

Symbol: CV554727
Name: GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1
Condition: not provided [RCV000683032]
Clinical Significance: pathogenic
Last Evaluated: 04/02/2018
Review Status: no assertion criteria provided
Related Genes: AGPAT5   ANGPT2   ARHGEF10   CLN8   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DLGAP2   ERICH1   FBXO25   KBTBD11   MCPH1   MYOM2   TDRP   XKR5   ZNF596  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.10:g.(?_158048)_(6999114_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh378158,048 - 6,999,114CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13795933
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-05-19
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.