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Variant : CV164283 (GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1) Homo sapiens

Symbol: CV164283
Name: GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1
Condition: See cases [RCV000142596]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGPAT5   ANGPT2   ARHGEF10   CLDN23   CLN8   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB109B   DEFB4A   DEFB4B   DLGAP2   DLGAP2-AS1   ERI1   ERICH1   FAM66B   FAM66E   FAM85B   FAM87A   FBXO25   KBTBD11   KBTBD11-OT1   LINC00965   MCPH1   MCPH1-AS1   MFHAS1   MIR124-1   MIR124-1HG   MIR3674   MIR4659A   MIR4659B   MIR4660   MIR548I3   MIR596   MIR597   MIR7160   MIR8055   MSRA   MYOM2   PPP1R3B   PRAG1   PRR23D1   PRR23D2   SNORD3I   SPAG11A   SPAG11B   TDRP   TNKS   USP17L1   USP17L3   USP17L4   USP17L8   XKR5   ZNF596   ZNF705B   ZNF705G  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_241530)_(10458484_?)del
NC_000008.10:g.(?_191530)_(10315994_?)del
NC_000008.9:g.(?_181530)_(10353404_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388241,530 - 10,458,484CLINVAR
GRCh378191,530 - 10,315,994CLINVAR
Build 368181,530 - 10,353,404CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490194
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-19
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.