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Variant : CV165449 (GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1) Homo sapiens

Symbol: CV165449
Name: GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1
Condition: See cases [RCV000143762]
Clinical Significance: likely pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM8   ADGRA1   ADGRA1-AS1   BNIP3   CALY   CFAP46   CYP2E1   DPYSL4   ECHS1   FUOM   INPP5A   JAKMIP3   KNDC1   LINC01164   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)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_131424682)_(133613639_?)del
NC_000010.10:g.(?_133222945)_(135427143_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3810131,424,682 - 133,613,639CLINVAR
GRCh3710133,222,945 - 135,427,143CLINVAR
Build 3610133,112,935 - 135,277,133CLINVAR
Cytogenetic Map1010q26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491360
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.