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Variant : CV155718 (GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1) Homo sapiens

Symbol: CV155718
Name: GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1
Condition: See cases [RCV000135293]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by 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   DEFB103B   DEFB104B   DEFB109B   DEFB4B   DLGAP2   DLGAP2-AS1   ERICH1   FAM66B   FBXO25   GS1-24F4.2   KBTBD11   KBTBD11-OT1   LINC00965   LOC101927815   LOC101928095   LOC105377777   LOC106783493   LOC107522030   LOC113788286   LOC113788289   LOC114827837   MCPH1   MCPH1-AS1   MIR3674   MIR4659A   MIR4659B   MIR596   MIR7160   MIR8055   MYOM2   SPAG11B   TDRP   USP17L1   USP17L4   XKR5   ZNF705G  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_410369)_(7477103_?)del
Human AssemblyChrPosition (strand)Source
GRCh388410,369 - 7,477,103CLINVAR
GRCh378360,369 - 7,334,625CLINVAR
Build 368350,369 - 7,322,035CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9482866
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.