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Variant : CV73999 (GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1) Homo sapiens

Symbol: CV73999
Name: GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053246]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053246]|See cases [RCV000053246]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTS17   ALDH1A3   ARRDC4   ASB7   CERS3   CERS3-AS1   CHSY1   FAM169B   IGF1R   IRAIN   LINC00923   LINC01582   LINC02244   LINC02251   LINC02348   LINC02351   LINS1   LRRC28   LRRK1   LUNAR1   LYSMD4   MEF2A   MIR4714   OR4F6   PCSK6   PCSK6-AS1   PGPEP1L   SELENOS   SNRPA1   SPATA41   SYNM   TARSL2   TM2D3   TTC23  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_97735430)_(101810992_?)del
NC_000015.9:g.(?_98278660)_(102351195_?)del
NC_000015.8:g.(?_96079664)_(100168718_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381597,735,430 - 101,810,992CLINVAR
GRCh371598,278,660 - 102,351,195CLINVAR
Build 361596,079,664 - 100,168,718CLINVAR
Cytogenetic Map1515q26.2-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620183
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.