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Variant : CV158018 (GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3) Homo sapiens

Symbol: CV158018
Name: GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3
Condition: See cases [RCV000137342]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACAA2   ADNP2   ALPK2   ATP8B1   ATP9B   BCL2   BOD1L2   C18orf32   C18orf54   C18orf63   CBLN2   CCBE1   CCDC102B   CCDC68   CD226   CDH19   CDH20   CDH7   CFAP53   CNDP1   CNDP2   CPLX4   CTDP1   CXXC1   CYB5A   DCC   DIPK1C   DOK6   DSEL   DYM   DYNAP   ELAC1   FBXO15   FECH   GALR1   GRP   GTSCR1   HMSD   HSBP1L1   KCNG2   KDSR   LINC-ROR   LINC00305   LINC00683   LINC00908   LINC00909   LINC01029   LINC01415   LINC01416   LINC01538   LINC01539   LINC01541   LINC01544   LINC01630   LINC01879   LINC01893   LINC01896   LINC01898   LINC01899   LINC01903   LINC01905   LINC01909   LINC01910   LINC01912   LINC01917   LINC01919   LINC01922   LINC01924   LINC01926   LINC01927   LINC01929   LINC02565   LINC02582   LINC02837   LINC02864   LIPG   LIVAR   LMAN1   LOC284241   MALT1   MAPK4   MBD1   MBD2   MBP   MC4R   ME2   MEX3C   MIR122   MIR1539   MIR3591   MIR4320   MIR4528   MIR4529   MIR5011   MIR548AV   MRO   MYO5B   NARS1   NEDD4L   NETO1   NFATC1   ONECUT2   PARD6G   PARD6G-AS1   PHLPP1   PIGN   PMAIP1   POLI   RAB27B   RAX   RBFA   RBFADN   RELCH   RNF152   RPL17   RPL17-C18orf32   RTTN   SALL3   SCARNA17   SEC11C   SERPINB10   SERPINB11   SERPINB12   SERPINB13   SERPINB2   SERPINB3   SERPINB4   SERPINB5   SERPINB7   SERPINB8   SKA1   SLC66A2   SMAD4   SMIM21   SNHG22   SNORA108   SNORA37   SNORD58A   SNORD58B   SNORD58C   SOCS6   ST8SIA3   STARD6   TCF4   TCF4-AS1   TIMM21   TMX3   TNFRSF11A   TSHZ1   TXNL1   TXNL4A   VPS4B   WDR7   WDR7-OT1   ZADH2   ZCCHC2   ZNF236   ZNF236-DT   ZNF407   ZNF516   ZNF516-DT   ZNF532  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.(?_49199411)_(80254946_?)dup
NC_000018.9:g.(?_46725781)_(78012829_?)dup
NC_000018.8:g.(?_44979779)_(76113817_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381849,199,411 - 80,254,946CLINVAR
GRCh371846,725,781 - 78,012,829CLINVAR
Build 361844,979,779 - 76,113,817CLINVAR
Cytogenetic Map1818q21.1-23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484899
Created: 2014-09-09
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.