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Variant : CV74936 (GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1) Homo sapiens

Symbol: CV74936
Name: GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1
Condition: See cases [RCV000054219]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC016065.1   AC019257.1   AC100797.4   AC100810.1   AC246817.1   AF067845.2   AGPAT5   ANGPT2   ARHGEF10   CLN8   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DLGAP2   DLGAP2-AS1   ERICH1   FAM87A   FBXO25   GS1-24F4.2   KBTBD11   KBTBD11-OT1   LOC101927815   LOC105377777   LOC106783493   LOC107522030   LOC113788286   LOC113788289   LOC114827837   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.(?_241530)_(7195723_?)del
NC_000008.10:g.(?_191530)_(7053245_?)del
NC_000008.9:g.(?_181530)_(7040655_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388241,530 - 7,195,723CLINVAR
GRCh378191,530 - 7,053,245CLINVAR
Build 368181,530 - 7,040,655CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621129
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
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.