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Variant : CV165194 (GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1) Homo sapiens

Symbol: CV165194
Name: GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1
Condition: See cases [RCV000143507]
Clinical Significance: pathogenic
Last Evaluated: 07/16/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGPAT5   ANGPT2   ARHGEF10   CLN8   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DLGAP2   DLGAP2-AS1   ERICH1   FAM87A   FBXO25   KBTBD11   KBTBD11-OT1   MCPH1   MCPH1-AS1   MIR3674   MIR4659A   MIR4659B   MIR596   MIR7160   MIR8055   MYOM2   TDRP   XKR5   ZNF596  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_208048)_(7087252_?)del
NC_000008.10:g.(?_158048)_(6944774_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388208,048 - 7,087,252CLINVAR
GRCh378158,048 - 6,944,774CLINVAR
Build 368148,048 - 6,932,184CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491105
Created: 2014-09-09
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.