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Variant : CV72818 (GRCh38/hg38 15q26.3(chr15:98909148-99173160)x1) Homo sapiens

Symbol: CV72818
Name: GRCh38/hg38 15q26.3(chr15:98909148-99173160)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051971]|See cases [RCV000051971]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: IGF1R   LUNAR1   PGPEP1L   SYNM   TTC23  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_98909148)_(99173160_?)del
NC_000015.9:g.(?_99452377)_(99713365_?)del
NC_000015.8:g.(?_97269900)_(97530888_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381598,909,148 - 99,173,160CLINVAR
GRCh371599,452,377 - 99,713,365CLINVAR
Build 361597,269,900 - 97,530,888CLINVAR
Cytogenetic Map1515q26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618980
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.