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Variant : CV73418 (GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1) Homo sapiens

Symbol: CV73418
Name: GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052612]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052612]|See cases [RCV000052612]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAM12   ADAM8   ADGRA1   ADGRA1-AS1   BNIP3   C10orf143   C10orf90   CALY   CFAP46   CLRN3   CYP2E1   DOCK1   DPYSL4   EBF3   ECHS1   FOXI2   FUOM   GLRX3   INPP5A   INSYN2A   JAKMIP3   KNDC1   LINC00601   LINC01163   LINC01164   LINC01165   LINC01166   LINC01167   LINC01168   LINC02667   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.(?_126256585)_(133613938_?)del
NC_000010.10:g.(?_127945154)_(135427442_?)del
NC_000010.9:g.(?_127935144)_(135277432_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3810126,256,585 - 133,613,938CLINVAR
GRCh3710127,945,154 - 135,427,442CLINVAR
Build 3610127,935,144 - 135,277,432CLINVAR
Cytogenetic Map1010q26.2-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619588
Created: 2014-05-13
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.