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Variant : CV383512 (GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1) Homo sapiens

Symbol: CV383512
Name: GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1
Condition: See cases [RCV000447763]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCA1   ABITRAM   ACTL7A   ACTL7B   AKNA   ALAD   AMBP   ASTN2   ATP6V1G1   BRINP1   BSPRY   C5   C9orf152   C9orf43   CDC26   CDK5RAP2   CNTRL   COL27A1   CRB2   CTNNAL1   CYLC2   DAB2IP   DELEC1   DENND1A   DNAJC25   DNAJC25-GNG10   ECPAS   ELP1   EPB41L4B   FBXW2   FKBP15   FKTN   FRRS1L   FSD1L   GNG10   GPR21   GSN   HDHD3   HSDL2   INIP   KIAA1958   KIF12   KLF4   LHX6   LPAR1   MEGF9   MIR32   MORN5   MRRF   MUSK   NDUFA8   NIPSNAP3A   NIPSNAP3B   OR13C2   OR13C3   OR13C4   OR13C5   OR13C8   OR13C9   OR13D1   OR13F1   OR1B1   OR1J1   OR1J2   OR1J4   OR1K1   OR1L1   OR1L3   OR1L4   OR1L6   OR1L8   OR1N1   OR1N2   OR1Q1   OR2K2   OR5C1   ORM1   ORM2   PALM2AKAP2   PAPPA   PAPPA-AS1   PDCL   PHF19   POLE3   PRPF4   PSMD5   PTBP3   PTGR1   PTGS1   PTPN3   RAB14   RABGAP1   RAD23B   RBM18   RC3H2   RGS3   RNF183   SHOC1   SLC31A1   SLC31A2   SLC44A1   SLC46A2   SMC2   SNX30   STOM   STRBP   SUSD1   SVEP1   TAL2   TLR4   TMEM245   TMEM268   TMEM38B   TNC   TNFSF15   TNFSF8   TRAF1   TRIM32   TTLL11   TTLL11-IT1   TXN   TXNDC8   UGCG   WDR31   WHRN   ZBTB26   ZBTB6   ZFP37   ZNF462   ZNF483   ZNF618   ZNF883  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh379104,604,851 - 126,253,089CLINVAR
Cytogenetic Map99q31.1-33.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852476
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-21
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.