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Variant : CV594476 (GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2) Homo sapiens

Symbol: CV594476
Name: GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2
Condition: not provided [RCV000739776]
Clinical Significance: pathogenic
Last Evaluated: 06/26/2015
Review Status: no assertion criteria provided
Related Genes: ABHD3   ACAA2   ANKRD29   AQP4   ASXL3   ATP5F1A   B4GALT6   C18orf21   C18orf25   C18orf32   CABLES1   CABYR   CCDC178   CDH2   CELF4   CFAP53   CHST9   CTAGE1   CTIF   CXXC1   DCC   DSC1   DSC2   DSC3   DSG1   DSG2   DSG3   DSG4   DTNA   DYM   ELAC1   ELOA2   ELOA3   ELOA3B   ELOA3D   ELP2   EPG5   ESCO1   FHOD3   GALNT1   GAREM1   GATA6   GREB1L   HAUS1   HDHD2   HRH4   IER3IP1   IMPACT   INO80C   KATNAL2   KCTD1   KIAA1328   KLHL14   LAMA3   LIPG   LOXHD1   MAPK4   MAPRE2   MBD1   ME2   MEP1B   MEX3C   MIB1   MIR1-2   MIR133A1   MIR187   MOCOS   MRO   MYO5B   NOL4   NPC1   OSBPL1A   PIAS2   PIK3C3   PSMA8   PSTPIP2   RBBP8   RIOK3   RIT2   RMC1   RNF125   RNF138   RNF165   ROCK1   RPL17   RPL17-C18orf32   RPRD1A   SETBP1   SIGLEC15   SKA1   SKOR2   SLC14A1   SLC14A2   SLC25A52   SLC39A6   SMAD2   SMAD4   SMAD7   SNRPD1   SS18   ST8SIA5   SYT4   TAF4B   TMEM241   TPGS2   TRAPPC8   TTC39C   TTR   ZBTB7C   ZNF24   ZNF396   ZNF397   ZNF521   ZSCAN30  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371818,539,806 - 49,926,444CLINVAR
Cytogenetic Map1818q11.1-21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14355150
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-05-19
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.