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

Variant : CV170751 (GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3) Homo sapiens

Symbol: CV170751
Name: GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3
Condition: See cases [RCV000148149]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAP2   ATAD5   COPRS   CRLF3   EVI2A   EVI2B   MIR193A   MIR365B   MIR4724   MIR4725   MIR4733   NF1   OMG   RAB11FIP4   RNF135   SUZ12   TEFM   TRT-CGT4-1   UTP6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_30706864)_(31999939_?)dup
NC_000017.10:g.(?_29033882)_(30326958_?)dup
NC_000017.9:g.(?_26058008)_(27351071_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381730,706,864 - 31,999,939CLINVAR
GRCh371729,033,882 - 30,326,958CLINVAR
Build 361726,058,008 - 27,351,071CLINVAR
Cytogenetic Map1717q11.2CLINVAR




Additional Information

 
RGD Object Information
RGD ID: 9684698
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE



NHLBI Logo

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