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

Variant : CV383939 (GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1) Homo sapiens

Symbol: CV383939
Name: GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1
Condition: See cases [RCV000448405]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCC4   ABHD13   ADPRHL1   ANKRD10   ANKRD10-IT1   ARGLU1   ARHGEF7   ATP11A   ATP11AUN   ATP4B   BIVM   BIVM-ERCC5   CARS2   CCDC168   CDC16   CHAMP1   CLDN10   CLYBL   COL4A1   COL4A2   CUL4A   DAOA   DAOA-AS1   DCT   DCUN1D2   DNAJC3   DOCK9   DZIP1   EFNB2   ERCC5   F10   F7   FAM155A   FARP1   FGF14   GAS6   GGACT   GPC5   GPC6   GPR18   GPR180   GPR183   GRTP1   HS6ST3   ING1   IPO5   IRS2   ITGBL1   LAMP1   LIG4   LINC00565   LINC00567   MBNL2   MCF2L   METTL21C   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR4500HG   MIR92A1   MYO16   NALCN   NAXD   OXGR1   PCCA   PCID2   POGLUT2   PROZ   RAB20   RAP2A   RASA3   RNF113B   SLC10A2   SLC15A1   SLITRK5   SOX1   SOX21   SPACA7   STK24   TEX29   TEX30   TFDP1   TGDS   TM9SF2   TMCO3   TMEM255B   TMTC4   TNFSF13B   TPP2   TUBGCP3   UBAC2   UGGT2   UPF3A   ZIC2   ZIC5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371388,073,140 - 115,107,733CLINVAR
Cytogenetic Map1313q31.2-34CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853113
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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