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Variant : CV158718 (GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3) Homo sapiens

Symbol: CV158718
Name: GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3
Condition: See cases [RCV000138029]
Clinical Significance: likely pathogenic
Last Evaluated: 03/09/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AADACL3   AADACL4   C1orf158   HNRNPCL1   HNRNPCL2   HNRNPCL3   HNRNPCL4   KAZN   LINC01784   LRRC38   PDPN   PRAMEF1   PRAMEF10   PRAMEF11   PRAMEF12   PRAMEF13   PRAMEF14   PRAMEF15   PRAMEF17   PRAMEF18   PRAMEF19   PRAMEF2   PRAMEF20   PRAMEF25   PRAMEF26   PRAMEF27   PRAMEF33   PRAMEF4   PRAMEF5   PRAMEF6   PRAMEF7   PRAMEF8   PRAMEF9   PRDM2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_12627415)_(13993978_?)dup
NC_000001.10:g.(?_12687421)_(14320473_?)dup
NC_000001.9:g.(?_12610008)_(14193060_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,627,415 - 13,993,978CLINVAR
GRCh37112,687,421 - 14,320,473CLINVAR
Build 36112,610,008 - 14,193,060CLINVAR
Cytogenetic Map11p36.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485578
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.