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Variant : CV73269 (GRCh38/hg38 15q13.2-13.3(chr15:30527262-32343758)x1) Homo sapiens

Symbol: CV73269
Name: GRCh38/hg38 15q13.2-13.3(chr15:30527262-32343758)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052452]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052452]|See cases [RCV000052452]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARHGAP11B   CHRNA7   FAN1   GOLGA8H   GOLGA8Q   KLF13   LINC02352   MIR211   MTMR10   OTUD7A   TRPM1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_30527262)_(32343758_?)del
NC_000015.9:g.(?_30819465)_(32635959_?)del
NC_000015.8:g.(?_28606757)_(30423251_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381530,527,262 - 32,343,758CLINVAR
GRCh371530,819,465 - 32,635,959CLINVAR
Build 361528,606,757 - 30,423,251CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619437
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-08-06
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.