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Variant : CV72053 (GRCh38/hg38 1q22(chr1:155182457-155787428)x3) Homo sapiens

Symbol: CV72053
Name: GRCh38/hg38 1q22(chr1:155182457-155787428)x3
Condition: Poor coordination [RCV000051164]|See cases [RCV000051164]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ASH1L   ASH1L-AS1   CLK2   DAP3   FAM189B   FDPS   GBA   GON4L   HCN3   MIR555   MIR92B   MSTO1   MTX1   MUC1   PKLR   RUSC1   RUSC1-AS1   SCAMP3   SCARNA26A   SCARNA26B   THBS3   TRIM46   YY1AP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.10:g.(?_155154933)_(155757219_?)dup
NC_000001.9:g.(?_153421557)_(154023843_?)dup
NC_000001.11:g.(?_155182457)_(155787428_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381155,182,457 - 155,787,428CLINVAR
GRCh371155,154,933 - 155,757,219CLINVAR
Build 361153,421,557 - 154,023,843CLINVAR
Cytogenetic Map11q22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618204
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
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.