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Variant : CV164868 (GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1) Homo sapiens

Symbol: CV164868
Name: GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1
Condition: See cases [RCV000143181]
Clinical Significance: pathogenic
Last Evaluated: 01/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC104024.1   AKAP10   ALDH3A1   ALDH3A2   ALKBH5   ATPAF2   B9D1   CCDC144A   COPS3   DRC3   DRG2   EPN2   EPN2-AS1   EPN2-IT1   EVPLL   FAM106A   FAM106B   FAM106C   FAM83G   FBXW10   FLCN   FLII   FOXO3B   GID4   GRAP   GRAPL   LGALS9C   LINC02076   LINC02090   LLGL1   MAPK7   MED9   MFAP4   MIEF2   MIR1180   MIR33B   MIR6777   MIR6778   MPRIP   MYO15A   NT5M   PEMT   PLD6   PRPSAP2   RAI1   RAI1-AS1   RASD1   RNF112   SHMT1   SLC47A1   SLC47A2   SLC5A10   SMCR2   SMCR5   SMCR8   SNORA59B   SNORD3A   SNORD3B-1   SNORD3B-2   SNORD3C   SNORD3D   SPECC1   SREBF1   TBC1D28   TNFRSF13B   TOM1L2   TOP3A   TRG-CCC3-1   TRIM16L   TRW-CCA2-1   TVP23B   ULK2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_16699816)_(20428292_?)del
NC_000017.10:g.(?_16603130)_(20331605_?)del
NC_000017.9:g.(?_16543855)_(20272197_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381716,699,816 - 20,428,292CLINVAR
GRCh371716,603,130 - 20,331,605CLINVAR
Build 361716,543,855 - 20,272,197CLINVAR
Cytogenetic Map1717p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490779
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
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.