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Variant : CV74331 (GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3) Homo sapiens

Symbol: CV74331
Name: GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3
Condition: See cases [RCV000053600]
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   AC022784.1   AC100797.5   AC100810.1   AC104964.1   AC105001.1   AC246817.1   AF067845.2   AF131215.3   AF131216.3   AF233439.1   AGPAT5   ANGPT2   ARHGEF10   BLK   C8orf49   C8orf74   CLDN23   CLN8   CSMD1   CTSB   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB109B   DEFB134   DEFB135   DEFB136   DEFB4A   DEFB4B   DLGAP2   DLGAP2-AS1   ERI1   ERICH1   FAM167A   FAM167A-AS1   FAM66B   FAM66E   FAM85B   FAM87A   FBXO25   FDFT1   GATA4   KBTBD11   KBTBD11-OT1   LINC00208   LINC00965   MCPH1   MCPH1-AS1   MFHAS1   MIR124-1   MIR124-1HG   MIR1322   MIR3674   MIR4286   MIR4659A   MIR4659B   MIR4660   MIR548I3   MIR596   MIR597   MIR598   MIR7160   MIR8055   MSRA   MTMR9   MYOM2   NEIL2   OR4F21   PINX1   PPP1R3B   PRAG1   PRR23D1   PRR23D2   PRSS51   PRSS55   RP1L1   SLC35G5   SNORA99   SNORD3I   SOX7   SPAG11A   SPAG11B   TDRP   TNKS   USP17L1   USP17L3   USP17L4   USP17L8   XKR5   XKR6   ZNF596   ZNF705B   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_96310)_(12021806_?)dup
NC_000008.10:g.(?_46310)_(11879315_?)dup
NC_000008.9:g.(?_36310)_(11916724_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38896,310 - 12,021,806CLINVAR
GRCh37846,310 - 11,879,315CLINVAR
Build 36836,310 - 11,916,724CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620521
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-23
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.