Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV383349 (GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1) Homo sapiens

Symbol: CV383349
Name: GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1
Condition: See cases [RCV000447931]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADNP2   ALPK2   ATP8B1   ATP9B   BCL2   BOD1L2   C18orf54   C18orf63   CBLN2   CCBE1   CCDC102B   CCDC68   CD226   CDH19   CDH20   CDH7   CFAP53   CNDP1   CNDP2   CPLX4   CTDP1   CXXC1   CYB5A   DCC   DIPK1C   DOK6   DSEL   DYNAP   ELAC1   FBXO15   FECH   GALR1   GRP   HMSD   HSBP1L1   KCNG2   KDSR   LINC-ROR   LINC00683   LINC01415   LINC01879   LMAN1   MALT1   MAPK4   MBD1   MBD2   MBP   MC4R   ME2   MEX3C   MIR122   MRO   MYO5B   NARS1   NEDD4L   NETO1   NFATC1   ONECUT2   PARD6G   PHLPP1   PIGN   PMAIP1   POLI   RAB27B   RAX   RBFA   RELCH   RNF152   RTTN   SALL3   SEC11C   SERPINB10   SERPINB11   SERPINB12   SERPINB13   SERPINB2   SERPINB3   SERPINB4   SERPINB5   SERPINB7   SERPINB8   SKA1   SLC66A2   SMAD4   SMIM21   SOCS6   ST8SIA3   STARD6   TCF4   TIMM21   TMX3   TNFRSF11A   TSHZ1   TXNL1   TXNL4A   VPS4B   WDR7   ZADH2   ZCCHC2   ZNF236   ZNF407   ZNF516   ZNF532  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371847,656,799 - 78,014,123CLINVAR
Cytogenetic Map1818q21.1-23CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12852642
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.