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Variant : CV248342 (GRCh37/hg19 14q11.2(chr14:20978713-21575128)x3) Homo sapiens

Symbol: CV248342
Name: GRCh37/hg19 14q11.2(chr14:20978713-21575128)x3
Condition: See cases [RCV000239791]
Clinical Significance: uncertain significance
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ANG   ARHGEF40   EDDM3A   EDDM3B   METTL17   NDRG2   OR6S1   RNASE1   RNASE10   RNASE11   RNASE12   RNASE13   RNASE2   RNASE3   RNASE4   RNASE6   RNASE7   RNASE8   RNASE9   SLC39A2   TMEM253   TPPP2   TRL-AAG2-3   TRP-AGG2-5   TRP-AGG2-6   TRT-TGT3-1   ZNF219  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371420,978,713 - 21,575,128CLINVAR
Cytogenetic Map1414q11.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541313
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-02-04
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.