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Variant : CV158406 (GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1) Homo sapiens

Symbol: CV158406
Name: GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1
Condition: See cases [RCV000137723]
Clinical Significance: likely pathogenic
Last Evaluated: 08/29/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANO3   ANO3-AS1   BBOX1   BBOX1-AS1   BDNF   BDNF-AS   CCDC34   FIBIN   LGR4   LGR4-AS1   LIN7C   LINC00678   LINC02686   LINC02699   LINC02718   LINC02726   LUZP2   MIR8054   MIR8087   MUC15   SLC5A12  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_23024064)_(27978597_?)del
NC_000011.9:g.(?_23045610)_(28000144_?)del
NC_000011.8:g.(?_23002186)_(27956720_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381123,024,064 - 27,978,597CLINVAR
GRCh371123,045,610 - 28,000,144CLINVAR
Build 361123,002,186 - 27,956,720CLINVAR
Cytogenetic Map1111p14.3-14.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485275
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-08
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.