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Variant : CV73448 (GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1) Homo sapiens

Symbol: CV73448
Name: GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1
Condition: EEG abnormality [RCV000052643]|See cases [RCV000052643]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAM8   ADGRA1   ADGRA1-AS1   BNIP3   CALY   CFAP46   CYP2E1   DPYSL4   ECHS1   FUOM   INPP5A   JAKMIP3   KNDC1   LINC01165   LINC01166   LINC01167   LINC01168   LINC02870   LRRC27   MIR202   MIR202HG   MIR3944   MTG1   NKX6-2   PAOX   PPP2R2D   PRAP1   PWWP2B   SPRN   STK32C   SYCE1   TUBGCP2   UTF1   VENTX   ZNF511  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_131914873)_(133613938_?)del
Human AssemblyChrPosition (strand)Source
GRCh3810131,914,873 - 133,613,938CLINVAR
GRCh3710133,728,377 - 135,427,442CLINVAR
Build 3610133,578,367 - 135,277,432CLINVAR
Cytogenetic Map1010q26.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619618
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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