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Variant : CV41061 (GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3) Homo sapiens

Symbol: CV41061
Name: GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050899]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050899]|See cases [RCV000050899]
Clinical Significance: uncertain significance|conflicting data from submitters
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: ARHGAP11B   CHRFAM7A   CHRNA7   FAN1   GOLGA8H   GOLGA8K   GOLGA8N   GOLGA8O   GOLGA8Q   GOLGA8R   KLF13   LINC02256   LINC02352   MIR211   MTMR10   OTUD7A   TRPM1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_30361674)_(32607357_?)dup
NC_000015.9:g.(?_30653877)_(32899558_?)dup
NC_000015.8:g.(?_28441169)_(30686850_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381530,361,674 - 32,607,357CLINVAR
GRCh371530,653,877 - 32,899,558CLINVAR
Build 361528,441,169 - 30,686,850CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617961
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-08
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.