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Variant : CV163033 (GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1) Homo sapiens

Symbol: CV163033
Name: GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1
Condition: See cases [RCV000141729]
Clinical Significance: pathogenic
Last Evaluated: 03/24/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALKBH5   ATPAF2   COPS3   DRC3   DRG2   EVPLL   FAM106A   FAM83G   FBXW10   FLCN   FLII   FOXO3B   GID4   LGALS9C   LINC02076   LLGL1   MED9   MIEF2   MIR33B   MIR6777   MIR6778   MPRIP   MYO15A   NT5M   PEMT   PLD6   PRPSAP2   RAI1   RAI1-AS1   RASD1   SHMT1   SLC5A10   SMCR2   SMCR5   SMCR8   SREBF1   TBC1D28   TOM1L2   TOP3A   TRIM16L   TVP23B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_17067833)_(19019419_?)del
Human AssemblyChrPosition (strand)Source
GRCh381717,067,833 - 19,019,419CLINVAR
GRCh371716,971,147 - 18,922,732CLINVAR
Build 361716,911,872 - 18,863,457CLINVAR
Cytogenetic Map1717p11.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489252
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


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