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Variant : CV160111 (GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1) Homo sapiens

Symbol: CV160111
Name: GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1
Condition: See cases [RCV000139225]
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   CSNK1A1L   DCLK1   EXOSC8   FREM2   FREM2-AS1   FRY   FRY-AS1   HMGB1   HSPH1   KL   LINC00366   LINC00398   LINC00423   LINC00426   LINC00437   LINC00445   LINC00457   LINC00545   LINC00547   LINC00571   LINC01048   LINC01058   LINC02343   LINC02344   MAB21L1   MEDAG   N4BP2L1   N4BP2L2   N4BP2L2-IT2   NBEA   NHLRC3   PDS5B   POSTN   PROSER1   RFC3   RFXAP   RXFP2   SERTM1   SMAD9   SOHLH2   SPART   SPART-AS1   STARD13   STARD13-AS   STOML3   SUPT20H   TEX26   TEX26-AS1   TRN-GTT2-4   TRPC4   UBE2L5   UFM1   USPL1   ZAR1L  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_30313809)_(39267681_?)del
NC_000013.10:g.(?_30887946)_(39841818_?)del
NC_000013.9:g.(?_29785946)_(38739818_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381330,313,809 - 39,267,681CLINVAR
GRCh371330,887,946 - 39,841,818CLINVAR
Build 361329,785,946 - 38,739,818CLINVAR
Cytogenetic Map1313q12.3-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486756
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.