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Variant : CV247805 (GRCh37/hg19 3q29(chr3:196281672-197681798)x3) Homo sapiens

Symbol: CV247805
Name: GRCh37/hg19 3q29(chr3:196281672-197681798)x3
Condition: See cases [RCV000239963]
Clinical Significance: likely pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: BDH1   CEP19   DLG1   FBXO45   FYTTD1   IQCG   LRCH3   MELTF   NCBP2   NRROS   PAK2   PIGX   PIGZ   RPL35A   RUBCN   SENP5   WDR53  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh373196,281,672 - 197,681,798CLINVAR
Cytogenetic Map33q29CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541441
Created: 2016-10-11
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.