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

Variant : CV75034 (GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1) Homo sapiens

Symbol: CV75034
Name: GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1
Condition: See cases [RCV000054339]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC104024.1   ALKBH5   ATPAF2   COPS3   DRC3   DRG2   FLCN   FLII   GID4   LINC02090   LLGL1   MED9   MIEF2   MIR33B   MIR6777   MIR6778   MPRIP   MYO15A   NT5M   PEMT   PLD6   RAI1   RAI1-AS1   RASD1   SHMT1   SMCR2   SMCR5   SMCR8   SREBF1   TNFRSF13B   TOM1L2   TOP3A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_16817557)_(18362819_?)del
NC_000017.10:g.(?_16720871)_(18266133_?)del
NC_000017.9:g.(?_16661596)_(18206858_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381716,817,557 - 18,362,819CLINVAR
GRCh371716,720,871 - 18,266,133CLINVAR
Build 361716,661,596 - 18,206,858CLINVAR
Cytogenetic Map1717p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621228
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

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