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Variant : CV437324 (GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3) Homo sapiens

Symbol: CV437324
Name: GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3
Condition: See cases [RCV000512030]
Clinical Significance: pathogenic
Last Evaluated: 11/19/2013
Review Status: no assertion criteria provided
Related Genes: ABHD3   ACAA2   ADNP2   ALPK2   ANKRD29   AQP4   ASXL3   ATP5F1A   ATP8B1   ATP9B   B4GALT6   BCL2   BOD1L2   C18orf21   C18orf25   C18orf32   C18orf54   C18orf63   CABLES1   CABYR   CBLN2   CCBE1   CCDC102B   CCDC178   CCDC68   CD226   CDH19   CDH2   CDH20   CDH7   CELF4   CFAP53   CHST9   CNDP1   CNDP2   CPLX4   CTAGE1   CTDP1   CTIF   CXXC1   CYB5A   DCC   DIPK1C   DOK6   DSC1   DSC2   DSC3   DSEL   DSG1   DSG2   DSG3   DSG4   DTNA   DYM   DYNAP   ELAC1   ELOA2   ELOA3   ELOA3B   ELOA3D   ELP2   EPG5   ESCO1   FBXO15   FECH   FHOD3   GALNT1   GALR1   GAREM1   GATA6   GREB1L   GRP   HAUS1   HDHD2   HMSD   HRH4   HSBP1L1   IER3IP1   IMPACT   INO80C   KATNAL2   KCNG2   KCTD1   KDSR   KIAA1328   KLHL14   LAMA3   LINC-ROR   LINC00683   LINC01415   LINC01879   LIPG   LMAN1   LOXHD1   MALT1   MAPK4   MAPRE2   MBD1   MBD2   MBP   MC4R   ME2   MEP1B   MEX3C   MIB1   MIR1-2   MIR122   MIR133A1   MIR187   MOCOS   MRO   MYO5B   NARS1   NEDD4L   NETO1   NFATC1   NOL4   NPC1   ONECUT2   OSBPL1A   PARD6G   PHLPP1   PIAS2   PIGN   PIK3C3   PMAIP1   POLI   PSMA8   PSTPIP2   RAB27B   RAX   RBBP8   RBFA   RELCH   RIOK3   RIT2   RMC1   RNF125   RNF138   RNF152   RNF165   ROCK1   RPL17   RPL17-C18orf32   RPRD1A   RTTN   SALL3   SEC11C   SERPINB10   SERPINB11   SERPINB12   SERPINB13   SERPINB2   SERPINB3   SERPINB4   SERPINB5   SERPINB7   SERPINB8   SETBP1   SIGLEC15   SKA1   SKOR2   SLC14A1   SLC14A2   SLC25A52   SLC39A6   SLC66A2   SMAD2   SMAD4   SMAD7   SMIM21   SNRPD1   SOCS6   SS18   ST8SIA3   ST8SIA5   STARD6   SYT4   TAF4B   TCF4   TIMM21   TMEM241   TMX3   TNFRSF11A   TPGS2   TRAPPC8   TSHZ1   TTC39C   TTR   TXNL1   TXNL4A   VPS4B   WDR7   ZADH2   ZBTB7C   ZCCHC2   ZNF236   ZNF24   ZNF396   ZNF397   ZNF407   ZNF516   ZNF521   ZNF532   ZSCAN30  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371814,869,204 - 78,014,123CLINVAR
Cytogenetic Map1818p11.21-q23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13444998
Created: 2017-11-07
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.