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Variant : CV157948 (GRCh38/hg38 13q31.1-31.3(chr13:84005264-92784013)x1) Homo sapiens

Symbol: CV157948
Name: GRCh38/hg38 13q31.1-31.3(chr13:84005264-92784013)x1
Condition: See cases [RCV000137272]
Clinical Significance: likely pathogenic
Last Evaluated: 03/21/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: GPC5   GPC5-AS1   GPC5-AS2   LINC00333   LINC00351   LINC00353   LINC00373   LINC00375   LINC00379   LINC00380   LINC00397   LINC00410   LINC00430   LINC00433   LINC00440   LINC00559   LINC00560   LINC01040   LINC01047   LINC01049   LINC02336   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR4500   MIR4500HG   MIR548AS   MIR622   MIR92A1   SLITRK5   SLITRK6   SNORA107  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_84005264)_(92784013_?)del
NC_000013.10:g.(?_84579399)_(93436266_?)del
NC_000013.9:g.(?_83477400)_(92234267_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381384,005,264 - 92,784,013CLINVAR
GRCh371384,579,399 - 93,436,266CLINVAR
Build 361383,477,400 - 92,234,267CLINVAR
Cytogenetic Map1313q31.1-31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484829
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.