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Variant : CV158609 (GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1) Homo sapiens

Symbol: CV158609
Name: GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1
Condition: See cases [RCV000137923]
Clinical Significance: pathogenic
Last Evaluated: 11/04/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALOX5AP   B3GLCT   BRCA2   CCDC169   CCDC169-SOHLH2   CCNA1   DCLK1   FRY   FRY-AS1   HMGB1   HSPH1   KATNAL1   KL   LINC00297   LINC00365   LINC00384   LINC00385   LINC00398   LINC00423   LINC00426   LINC00445   LINC00457   LINC00544   LINC00545   LINC00572   LINC01058   LINC02343   LINC02344   MAB21L1   MEDAG   MTUS2   MTUS2-AS1   N4BP2L1   N4BP2L2   N4BP2L2-IT2   NBEA   PDS5B   RFC3   RXFP2   SLC7A1   SOHLH2   SPART   SPART-AS1   STARD13   STARD13-AS   TEX26   TEX26-AS1   TRN-GTT2-4   UBE2L5   UBL3   USPL1   ZAR1L  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_29073320)_(36556014_?)del
NC_000013.10:g.(?_29647457)_(37130151_?)del
NC_000013.9:g.(?_28545457)_(36028151_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381329,073,320 - 36,556,014CLINVAR
GRCh371329,647,457 - 37,130,151CLINVAR
Build 361328,545,457 - 36,028,151CLINVAR
Cytogenetic Map1313q12.3-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485474
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.