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Variant : CV73351 (GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3) Homo sapiens

Symbol: CV73351
Name: GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3
Condition: Polydactyly [RCV000052543]|See cases [RCV000052543]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD3   ACAA2   ADNP2   ALPK2   ANKRD29   AQP4   AQP4-AS1   ASXL3   ATP5F1A   ATP8B1   ATP9B   B4GALT6   BCL2   BOD1L2   C18orf12   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   DSCAS   DSEL   DSG1   DSG1-AS1   DSG2   DSG2-AS1   DSG3   DSG4   DTNA   DYM   DYNAP   ELAC1   ELOA2   ELOA3   ELOA3B   ELOA3C   ELOA3D   ELP2   EPG5   ESCO1   FBXO15   FECH   FHOD3   GALNT1   GALR1   GAREM1   GATA6   GATA6-AS1   GREB1L   GRP   GTSCR1   HAUS1   HDHD2   HMSD   HRH4   HSBP1L1   IER3IP1   IMPACT   INO80C   KATNAL2   KCNG2   KCTD1   KDSR   KIAA1328   KLHL14   LAMA3   LINC-ROR   LINC00305   LINC00683   LINC00907   LINC00908   LINC00909   LINC01029   LINC01415   LINC01416   LINC01477   LINC01478   LINC01538   LINC01539   LINC01541   LINC01543   LINC01544   LINC01601   LINC01630   LINC01879   LINC01893   LINC01894   LINC01896   LINC01898   LINC01899   LINC01900   LINC01901   LINC01902   LINC01903   LINC01905   LINC01908   LINC01909   LINC01910   LINC01912   LINC01915   LINC01917   LINC01919   LINC01922   LINC01924   LINC01926   LINC01927   LINC01929   LINC02565   LINC02582   LINC02837   LINC02864   LIPG   LIVAR   LMAN1   LOC284241   LOXHD1   MALT1   MAPK4   MAPRE2   MBD1   MBD2   MBP   MC4R   ME2   MEP1B   MEX3C   MIB1   MIR1-2   MIR122   MIR133A1   MIR133A1HG   MIR1539   MIR187   MIR302F   MIR320C1   MIR320C2   MIR3591   MIR3929   MIR3975   MIR4318   MIR4319   MIR4320   MIR4527   MIR4527HG   MIR4528   MIR4529   MIR4741   MIR4743   MIR4744   MIR5011   MIR548AV   MIR5583-1   MIR5583-2   MIR8057   MIR924   MIR924HG   MOCOS   MRO   MYO5B   NARS1   NEDD4L   NETO1   NFATC1   NOL4   NPC1   ONECUT2   OSBPL1A   PARD6G   PARD6G-AS1   PCAT18   PHLPP1   PIAS2   PIGN   PIK3C3   PMAIP1   POLI   PSMA8   PSTPIP2   RAB27B   RAX   RBBP8   RBFA   RBFADN   RELCH   RIOK3   RIT2   RMC1   RNF125   RNF138   RNF152   RNF165   ROCK1   RPL17   RPL17-C18orf32   RPRD1A   RTTN   SALL3   SCARNA17   SEC11C   SERPINB10   SERPINB11   SERPINB12   SERPINB13   SERPINB2   SERPINB3   SERPINB4   SERPINB5   SERPINB7   SERPINB8   SETBP1   SETBP1-DT   SIGLEC15   SKA1   SKOR2   SLC14A1   SLC14A2   SLC14A2-AS1   SLC25A52   SLC39A6   SLC66A2   SMAD2   SMAD4   SMAD7   SMIM21   SNHG22   SNORA108   SNORA111   SNORA37   SNORD58A   SNORD58B   SNORD58C   SNRPD1   SOCS6   SS18   ST8SIA3   ST8SIA5   STARD6   SYT4   TAF4B   TCF4   TCF4-AS1   TIMM21   TMEM241   TMX3   TNFRSF11A   TPGS2   TRAPPC8   TRK-CTT6-1   TSHZ1   TTC39C   TTC39C-AS1   TTR   TXNL1   TXNL4A   VPS4B   WDR7   WDR7-OT1   ZADH2   ZBTB7C   ZCCHC2   ZNF236   ZNF236-DT   ZNF24   ZNF396   ZNF397   ZNF407   ZNF516   ZNF516-DT   ZNF521   ZNF532   ZSCAN30  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.(?_20960320)_(80234429_?)dup
NC_000018.9:g.(?_18540281)_(77992312_?)dup
NC_000018.8:g.(?_16794279)_(76093303_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381820,960,320 - 80,234,429CLINVAR
GRCh371818,540,281 - 77,992,312CLINVAR
Build 361816,794,279 - 76,093,303CLINVAR
Cytogenetic Map1818q11.1-23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619520
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.