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Variant : CV555442 (GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3) Homo sapiens

Symbol: CV555442
Name: GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3
Condition: not provided [RCV000683747]
Clinical Significance: pathogenic
Last Evaluated: 09/07/2017
Review Status: no assertion criteria provided
Related Genes: ADCY9   BICDL2   C16orf90   CLDN6   CLDN9   CLUAP1   CORO7   CORO7-PAM16   CREBBP   DNASE1   ELOB   FLYWCH1   FLYWCH2   GLIS2   HCFC1R1   IL32   KCTD5   KREMEN2   MEFV   MMP25   MTRNR2L4   NAA60   NLRC3   OR1F1   OR2C1   PAM16   PAQR4   PDPK1   PKMYT1   PRSS21   PRSS22   PRSS27   PRSS33   PRSS41   SLX4   SRL   SRRM2   TFAP4   THOC6   TIGD7   TNFRSF12A   TRAP1   VASN   ZG16B   ZNF174   ZNF200   ZNF205   ZNF213   ZNF263   ZNF597   ZNF75A   ZSCAN10   ZSCAN32  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37162,651,354 - 4,460,114CLINVAR
Cytogenetic Map1616p13.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13797543
Created: 2018-10-09
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.