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Variant : CV156351 (GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1) Homo sapiens

Symbol: CV156351
Name: GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1
Condition: See cases [RCV000135862]
Clinical Significance: pathogenic
Last Evaluated: 10/20/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALKBH5   ATPAF2   DRC3   DRG2   FLII   GID4   LLGL1   MIEF2   MIR33B   MIR6777   MYO15A   RAI1   SHMT1   SMCR8   SREBF1   TOM1L2   TOP3A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_17788412)_(18333372_?)del
NC_000017.10:g.(?_17691726)_(18236686_?)del
NC_000017.9:g.(?_17632451)_(18177411_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381717,788,412 - 18,333,372CLINVAR
GRCh371717,691,726 - 18,236,686CLINVAR
Build 361717,632,451 - 18,177,411CLINVAR
Cytogenetic Map1717p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483428
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.