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Variant : CV674002 (GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3) Homo sapiens

Symbol: CV674002
Name: GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3
Condition: not provided [RCV000847118]
Clinical Significance: pathogenic
Last Evaluated: 09/26/2017
Review Status: no assertion criteria provided
Related Genes: ACAA2   ALPK2   ATP8B1   BCL2   BOD1L2   C18orf32   C18orf54   CCBE1   CCDC68   CDH20   CFAP53   CPLX4   CTIF   CXXC1   DCC   DYM   DYNAP   ELAC1   FECH   GRP   KDSR   LINC-ROR   LINC01415   LIPG   LMAN1   MALT1   MAPK4   MBD1   MBD2   MC4R   ME2   MEX3C   MIR122   MRO   MYO5B   NARS1   NEDD4L   ONECUT2   PHLPP1   PIGN   PMAIP1   POLI   RAB27B   RAX   RELCH   RNF152   RPL17   RPL17-C18orf32   SEC11C   SERPINB11   SERPINB12   SERPINB13   SERPINB3   SERPINB4   SERPINB5   SKA1   SMAD4   SMAD7   ST8SIA3   STARD6   TCF4   TNFRSF11A   TXNL1   VPS4B   WDR7   ZBTB7C   ZCCHC2   ZNF532  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371845,621,155 - 61,416,536CLINVAR
Cytogenetic Map1818q21.1-21.33CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14976341
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2019-11-12
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.