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

Variant : CV382371 (GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1) Homo sapiens

Symbol: CV382371
Name: GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1
Condition: See cases [RCV000449272]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCC4   ABHD13   ACOD1   ARGLU1   ATXN8OS   BIVM   BIVM-ERCC5   BORA   CCDC168   CLDN10   CLN5   CLYBL   COMMD6   DACH1   DAOA   DAOA-AS1   DCT   DIAPH3   DIS3   DNAJC3   DOCK9   DZIP1   EDNRB   EFNB2   ERCC5   FAM155A   FARP1   FBXL3   FGF14   GGACT   GPC5   GPC6   GPR18   GPR180   GPR183   HS6ST3   IPO5   ITGBL1   KCTD12   KLF12   KLF5   KLHL1   LIG4   LINC00402   LINC00558   LMO7   LMO7DN   MBNL2   METTL21C   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR4500HG   MIR92A1   MYCBP2   MYO16   MZT1   NALCN   NDFIP2   OBI1   OLFM4   OXGR1   PCCA   PCDH17   PCDH20   PCDH9   PIBF1   POGLUT2   POU4F1   PRR20A   PRR20B   PRR20C   PRR20D   PRR20E   RAP2A   RBM26   RNF113B   SCEL   SLAIN1   SLC10A2   SLC15A1   SLITRK1   SLITRK5   SLITRK6   SOX21   SPRY2   STK24   TBC1D4   TDRD3   TEX30   TGDS   TM9SF2   TMTC4   TNFSF13B   TPP2   UBAC2   UCHL3   UGGT2   ZIC2   ZIC5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371353,551,300 - 109,850,651CLINVAR
Cytogenetic Map1313q14.3-33.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853968
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



NHLBI Logo

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