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Variant : CV672472 (GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3) Homo sapiens

Symbol: CV672472
Name: GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3
Condition: not provided [RCV000845588]
Clinical Significance: pathogenic
Last Evaluated: 09/20/2017
Review Status: no assertion criteria provided
Related Genes: AC034199.1   ADAM19   ADRA1B   ATP10B   C1QTNF2   C5orf52   C5orf58   CCNG1   CCNJL   CLINT1   CYFIP2   DOCK2   EBF1   FABP6   FGF18   FNDC9   FOXI1   GABRA1   GABRA6   GABRB2   GABRG2   GABRP   HMMR   IL12B   INSYN2B   ITK   KCNIP1   KCNMB1   LCP2   LSM11   MAT2B   MIR103A1   MIR146A   NIPAL4   NPM1   NUDCD2   PANK3   PTTG1   PWWP2A   RANBP17   RARS1   RNF145   SLIT3   SLU7   SOX30   SPDL1   TENM2   THG1L   TLX3   TTC1   UBLCP1   WWC1   ZBED8  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh375156,597,181 - 171,166,353CLINVAR
Cytogenetic Map55q33.3-35.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14976046
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-07-28
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.