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Variant : CV73998 (GRCh38/hg38 15q26.2-26.3(chr15:96913979-101843411)x1) Homo sapiens

Symbol: CV73998
Name: GRCh38/hg38 15q26.2-26.3(chr15:96913979-101843411)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053245]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053245]|See cases [RCV000053245]
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   LINC02254   LINC02348   LINC02351   LINS1   LRRC28   LRRK1   LUNAR1   LYSMD4   MEF2A   MIR4714   OR4F15   OR4F6   PCSK6   PCSK6-AS1   PGPEP1L   SELENOS   SNRPA1   SPATA41   SYNM   TARS3   TM2D3   TTC23  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_96913979)_(101843411_?)del
NC_000015.9:g.(?_97457209)_(102383614_?)del
NC_000015.8:g.(?_95258213)_(100201137_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381596,913,979 - 101,843,411CLINVAR
GRCh371597,457,209 - 102,383,614CLINVAR
Build 361595,258,213 - 100,201,137CLINVAR
Cytogenetic Map1515q26.2-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620182
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.