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Variant : CV73421 (GRCh38/hg38 10q26.3(chr10:129758596-133620674)x1) Homo sapiens

Symbol: CV73421
Name: GRCh38/hg38 10q26.3(chr10:129758596-133620674)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]|See cases [RCV000052615]
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   CYP2E1   DPYSL4   EBF3   ECHS1   FUOM   GLRX3   INPP5A   JAKMIP3   KNDC1   LINC01164   LINC01165   LINC01166   LINC01167   LINC01168   LINC02870   LRRC27   MGMT   MIR202   MIR202HG   MIR378C   MIR3944   MIR4297   MTG1   NKX6-2   PAOX   PPP2R2D   PRAP1   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.(?_129758596)_(133620674_?)del
NC_000010.10:g.(?_131556860)_(135434178_?)del
NC_000010.9:g.(?_131446850)_(135284168_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3810129,758,596 - 133,620,674CLINVAR
GRCh3710131,556,860 - 135,434,178CLINVAR
Build 3610131,446,850 - 135,284,168CLINVAR
Cytogenetic Map1010q26.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8619591
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.