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Variant : CV164450 (GRCh38/hg38 1q44(chr1:247404783-248472496)x3) Homo sapiens

Symbol: CV164450
Name: GRCh38/hg38 1q44(chr1:247404783-248472496)x3
Condition: See cases [RCV000142763]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: GCSAML   GCSAML-AS1   NLRP3   OR11L1   OR13G1   OR14A16   OR14A2   OR14C36   OR14K1   OR1C1   OR2AJ1   OR2AK2   OR2B11   OR2C3   OR2G2   OR2G3   OR2L13   OR2L2   OR2L3   OR2L5   OR2L8   OR2M2   OR2M3   OR2M4   OR2M5   OR2M7   OR2T1   OR2T12   OR2T2   OR2T33   OR2T4   OR2T6   OR2T7   OR2T8   OR2W3   OR2W5   OR6F1   TRIM58  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_247404783)_(248472496_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381247,404,783 - 248,472,496CLINVAR
GRCh371247,568,085 - 248,635,797CLINVAR
Build 361245,634,708 - 246,702,420CLINVAR
Cytogenetic Map11q44CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9490361
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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