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Variant : CV247918 (GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3) Homo sapiens

Symbol: CV247918
Name: GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3
Condition: See cases [RCV000240318]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: BICDL2   C16orf90   CLDN6   CLDN9   CLUAP1   CREBBP   DNASE1   FLYWCH1   FLYWCH2   HCFC1R1   IL32   KREMEN2   MEFV   MMP25   MTRNR2L4   NAA60   NLRC3   OR1F1   OR2C1   PAQR4   PKMYT1   PRSS21   PRSS22   SLX4   THOC6   TIGD7   TNFRSF12A   TRAP1   ZG16B   ZNF174   ZNF200   ZNF205   ZNF213   ZNF263   ZNF597   ZNF75A   ZSCAN10   ZSCAN32  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37162,867,891 - 3,942,436CLINVAR
Cytogenetic Map1616p13.3CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541736
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.