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Variant : CV73419 (GRCh38/hg38 10q26.2-26.3(chr10:127500483-133620674)x1) Homo sapiens

Symbol: CV73419
Name: GRCh38/hg38 10q26.2-26.3(chr10:127500483-133620674)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|See cases [RCV000052613]
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   C10orf143   CALY   CFAP46   CLRN3   CYP2E1   DPYSL4   EBF3   ECHS1   FOXI2   FUOM   GLRX3   INPP5A   JAKMIP3   KNDC1   LINC01163   LINC01164   LINC01165   LINC01166   LINC01167   LINC01168   LINC02870   LRRC27   MGMT   MIR202   MIR202HG   MIR378C   MIR3944   MIR4297   MKI67   MTG1   NKX6-2   NPS   PAOX   PPP2R2D   PRAP1   PTPRE   PWWP2B   SPRN   STK32C   SYCE1   TCERG1L   TCERG1L-AS1   TUBGCP2   UTF1   VENTX   ZNF511  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_127500483)_(133620674_?)del
NC_000010.10:g.(?_129298747)_(135434178_?)del
NC_000010.9:g.(?_129188737)_(135284168_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3810127,500,483 - 133,620,674CLINVAR
GRCh3710129,298,747 - 135,434,178CLINVAR
Build 3610129,188,737 - 135,284,168CLINVAR
Cytogenetic Map1010q26.2-26.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8619589
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.