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Variant : CV71946 (GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3) Homo sapiens

Symbol: CV71946
Name: GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3
Condition: Hypertelorism [RCV000051038]|See cases [RCV000051038]
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: CENPC   GNRHR   MIR1269A   STAP1   TMPRSS11A   TMPRSS11B   TMPRSS11D   TMPRSS11E   TMPRSS11F   UBA6   UBA6-AS1   UGT2B15   UGT2B17   YTHDC1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_65873016)_(68743024_?)dup
NC_000004.11:g.(?_66738734)_(69608742_?)dup
NC_000004.10:g.(?_66421329)_(69643331_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38465,873,016 - 68,743,024CLINVAR
GRCh37466,738,734 - 69,608,742CLINVAR
Build 36466,421,329 - 69,643,331CLINVAR
Cytogenetic Map44q13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618088
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.