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Variant : CV164182 (GRCh38/hg38 1q44(chr1:245979870-246615151)x3) Homo sapiens

Symbol: CV164182
Name: GRCh38/hg38 1q44(chr1:245979870-246615151)x3
Condition: See cases [RCV000142495]
Clinical Significance: likely benign
Last Evaluated: 08/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CNST   LINC01743   LOC110121251   SMYD3   SMYD3-AS1   TFB2M  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_245979870)_(246615151_?)dup
NC_000001.10:g.(?_246143172)_(246778453_?)dup
NC_000001.9:g.(?_244209795)_(244845076_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381245,979,870 - 246,615,151CLINVAR
GRCh371246,143,172 - 246,778,453CLINVAR
Build 361244,209,795 - 244,845,076CLINVAR
Cytogenetic Map11q44CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490093
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-29
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.