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Variant : CV73978 (GRCh38/hg38 15q24.2(chr15:75432164-75626896)x1) Homo sapiens

Symbol: CV73978
Name: GRCh38/hg38 15q24.2(chr15:75432164-75626896)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053222]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053222]|See cases [RCV000053222]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: PTPN9   SIN3A   SNUPN  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_75432164)_(75626896_?)del
NC_000015.9:g.(?_75724505)_(75919237_?)del
NC_000015.8:g.(?_73511558)_(73706292_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381575,432,164 - 75,626,896CLINVAR
GRCh371575,724,505 - 75,919,237CLINVAR
Build 361573,511,558 - 73,706,292CLINVAR
Cytogenetic Map1515q24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620159
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
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.