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Variant : CV160367 (GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1) Homo sapiens

Symbol: CV160367
Name: GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1
Condition: See cases [RCV000139442]
Clinical Significance: pathogenic
Last Evaluated: 06/01/2012
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.(?_226452)_(7084815_?)del
NC_000008.10:g.(?_176452)_(6942337_?)del
NC_000008.9:g.(?_166452)_(6929747_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388226,452 - 7,084,815CLINVAR
GRCh378176,452 - 6,942,337CLINVAR
Build 368166,452 - 6,929,747CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486973
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.