Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV164556 (GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3) Homo sapiens

Symbol: CV164556
Name: GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3
Condition: See cases [RCV000142869]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALG5   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   RFXAP   RXFP2   SERTM1   SLC7A1   SMAD9   SOHLH2   SPART   SPART-AS1   STARD13   STARD13-AS   TEX26   TEX26-AS1   TRN-GTT2-4   UBE2L5   UBL3   USPL1   ZAR1L  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_29321454)_(36995348_?)dup
NC_000013.10:g.(?_29895591)_(37569485_?)dup
NC_000013.9:g.(?_28793591)_(36467485_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381329,321,454 - 36,995,348CLINVAR
GRCh371329,895,591 - 37,569,485CLINVAR
Build 361328,793,591 - 36,467,485CLINVAR
Cytogenetic Map1313q12.3-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490467
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.