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Variant : CV160158 (GRCh38/hg38 1p36.21(chr1:12852720-13330100)x1) Homo sapiens

Symbol: CV160158
Name: GRCh38/hg38 1p36.21(chr1:12852720-13330100)x1
Condition: See cases [RCV000139263]
Clinical Significance: likely benign
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: HNRNPCL2   HNRNPCL3   HNRNPCL4   PRAMEF10   PRAMEF13   PRAMEF15   PRAMEF18   PRAMEF2   PRAMEF25   PRAMEF26   PRAMEF27   PRAMEF33   PRAMEF4   PRAMEF5   PRAMEF6   PRAMEF7   PRAMEF8   PRAMEF9  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_12852720)_(13330100_?)del
NC_000001.10:g.(?_12912573)_(13448340_?)del
NC_000001.9:g.(?_12835160)_(13320927_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,852,720 - 13,330,100 (+)CLINVAR
GRCh37112,912,573 - 13,448,340CLINVAR
Build 36112,835,160 - 13,320,927CLINVAR
Cytogenetic Map11p36.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486794
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.