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Variant : CV160134 (GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3) Homo sapiens

Symbol: CV160134
Name: GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3
Condition: See cases [RCV000139243]
Clinical Significance: likely benign
Last Evaluated: 07/02/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALKBH5   ATPAF2   DRC3   DRG2   EVPLL   FAM106A   FLII   GID4   LGALS9C   LINC02076   LLGL1   MIEF2   MIR33B   MIR6777   MIR6778   MYO15A   RAI1   RAI1-AS1   SHMT1   SMCR5   SMCR8   SREBF1   TOM1L2   TOP3A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_17748602)_(18551638_?)dup
NC_000017.10:g.(?_17651916)_(18454952_?)dup
NC_000017.9:g.(?_17592641)_(18395677_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381717,748,602 - 18,551,638CLINVAR
GRCh371717,651,916 - 18,454,952CLINVAR
Build 361717,592,641 - 18,395,677CLINVAR
Cytogenetic Map1717p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486774
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.