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Variant : CV555440 (GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3) Homo sapiens

Symbol: CV555440
Name: GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3
Condition: not provided [RCV000683745]
Clinical Significance: pathogenic
Last Evaluated: 01/03/2018
Review Status: no assertion criteria provided
Related Genes: ABCA3   ADCY9   AMDHD2   ATP6V0C   BICDL2   BRICD5   C16orf90   CASKIN1   CCNF   CEMP1   CLCN7   CLDN6   CLDN9   CLUAP1   CORO7   CORO7-PAM16   CRAMP1   CREBBP   DNASE1   DNASE1L2   E4F1   ECI1   ELOB   EME2   FAHD1   FLYWCH1   FLYWCH2   GFER   GLIS2   HAGH   HCFC1R1   HS3ST6   IFT140   IGFALS   IL32   JPT2   KCTD5   KREMEN2   MAPK8IP3   MEFV   MEIOB   MIR1225   MLST8   MMP25   MRPS34   MSRB1   MTRNR2L4   NAA60   NDUFB10   NLRC3   NME3   NOXO1   NPW   NTHL1   NTN3   NUBP2   OR1F1   OR2C1   PAM16   PAQR4   PDPK1   PGP   PKD1   PKMYT1   PRSS21   PRSS22   PRSS27   PRSS33   PRSS41   PTX4   RAB26   RNF151   RNPS1   RPL3L   RPS2   SLC9A3R2   SLX4   SNHG9   SPSB3   SRL   SRRM2   SYNGR3   TBC1D24   TBL3   TEDC2   TELO2   TFAP4   THOC6   TIGD7   TMEM204   TNFRSF12A   TRAF7   TRAP1   TSC2   ZG16B   ZNF174   ZNF200   ZNF205   ZNF213   ZNF263   ZNF597   ZNF598   ZNF75A   ZSCAN10   ZSCAN32  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37161,505,184 - 4,415,346CLINVAR
Cytogenetic Map1616p13.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13797519
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.