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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: AGPAT5   ANGPT2   ARHGEF10   CLN8   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103B   DEFB104B   DEFB109B   DEFB4B   DLGAP2   DLGAP2-AS1   ERICH1   FAM66B   FBXO25   KBTBD11   KBTBD11-OT1   LINC00965   MCPH1   MCPH1-AS1   MIR3674   MIR4659A   MIR4659B   MIR596   MIR7160   MIR8055   MYOM2   SPAG11B   TDRP   USP17L1   USP17L4   XKR5   ZNF705G  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_410369)_(7477103_?)del
NC_000008.10:g.(?_360369)_(7334625_?)del
Position
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
 
CRRD Object Information
CRRD ID: 9482866
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.