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Variant : CV382949 (GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1) Homo sapiens

Symbol: CV382949
Name: GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1
Condition: See cases [RCV000448743]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCA2   AGPAT2   AJM1   ANAPC2   ARRDC1   C8G   C9orf139   C9orf163   CACNA1B   CCDC183   CLIC3   CYSRT1   DIPK1B   DPH7   DPP7   EDF1   EGFL7   EHMT1   ENTPD2   ENTPD8   ENTR1   EXD3   FAM166A   FBXW5   FUT7   GRIN1   INPP5E   LCN10   LCN12   LCN15   LCN6   LCN8   LCNL1   LRRC26   MAMDC4   MAN1B1   MIR126   MRPL41   NDOR1   NELFB   NOTCH1   NOXA1   NPDC1   NRARP   NSMF   PAXX   PHPT1   PMPCA   PNPLA7   PTGDS   RABL6   RNF208   RNF224   SAPCD2   SEC16A   SLC34A3   SNAPC4   SNHG7   SSNA1   STPG3   TMEM141   TMEM203   TMEM210   TOR4A   TPRN   TRAF2   TUBB4B   UAP1L1   ZMYND19  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh379139,282,807 - 141,020,389CLINVAR
Cytogenetic Map99q34.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853444
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-14
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.