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Variant : CV488185 (arr[hg19]17p11.2(16,757,111-20,219,651)x3) Homo sapiens

Symbol: CV488185
Name: arr[hg19]17p11.2(16,757,111-20,219,651)x3
Condition: Potocki-Lupski syndrome [RCV000591005]
Clinical Significance: pathogenic
Last Evaluated: 06/14/2017
Review Status: no assertion criteria provided
Related Genes: AKAP10   ALDH3A1   ALDH3A2   ALKBH5   ATPAF2   B9D1   COPS3   DRC3   DRG2   EPN2   EVPLL   FAM83G   FBXW10   FLCN   FLII   GID4   GRAP   GRAPL   LGALS9C   LLGL1   MAPK7   MED9   MFAP4   MIEF2   MIR33B   MPRIP   MYO15A   NT5M   PEMT   PLD6   PRPSAP2   RAI1   RASD1   RNF112   SHMT1   SLC47A1   SLC47A2   SLC5A10   SMCR8   SNORD3A   SPECC1   SREBF1   TBC1D28   TNFRSF13B   TOM1L2   TOP3A   TRIM16L   TVP23B   ULK2  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: literature only
HGVS Name(s): NC_000017.10:g.(?_16757111)_(20219651_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh371716,757,111 - 20,219,651CLINVAR
Cytogenetic Map1717p11.2CLINVAR
Trait Synonyms: Chromosome 17, trisomy 17p11 2; CHROMOSOME 17p11.2 DUPLICATION SYNDROME; Duplication 17p11 2; Duplication 17p11.2 syndrome; Potocki-Lupski syndrome (dup(17)(p11.2p11.2)); Trisomy 17p11 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13521880
Created: 2018-04-10
Species: Homo sapiens
Last Modified: 2020-09-08
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.