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Variant : CV71947 (GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1) Homo sapiens

Symbol: CV71947
Name: GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051039]|See cases [RCV000051039]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: DMRT1   DMRT2   DMRT3   DOCK8   KANK1   KCNV2   LINC01230   LINC01231   PUM3   RFX3   RFX3-AS1   SMARCA2   VLDLR   VLDLR-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_220253)_(3793376_?)del
NC_000009.11:g.(?_220253)_(3793376_?)del
NC_000009.10:g.(?_210253)_(3783376_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389220,253 - 3,793,376CLINVAR
GRCh379220,253 - 3,793,376CLINVAR
Build 369210,253 - 3,783,376CLINVAR
Cytogenetic Map99p24.3-24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618089
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.