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Variant : CV435399 (GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1) Homo sapiens

Symbol: CV435399
Name: GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1
Condition: See cases [RCV000510890]
Clinical Significance: pathogenic
Last Evaluated: 07/07/2014
Review Status: no assertion criteria provided
Related Genes: ABCC4   ARGLU1   BIVM   BIVM-ERCC5   CCDC168   CLDN10   CLYBL   DAOA   DAOA-AS1   DCT   DNAJC3   DOCK9   DZIP1   EFNB2   ERCC5   FAM155A   FARP1   FGF14   GGACT   GPC5   GPC6   GPR18   GPR180   GPR183   HS6ST3   IPO5   ITGBL1   MBNL2   METTL21C   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR4500HG   MIR92A1   NALCN   OXGR1   PCCA   POGLUT2   RAP2A   RNF113B   SLC10A2   SLC15A1   SLITRK1   SLITRK5   SLITRK6   SOX21   SPRY2   STK24   TEX30   TGDS   TM9SF2   TMTC4   TPP2   UBAC2   UGGT2   ZIC2   ZIC5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371380,572,498 - 108,719,528CLINVAR
Cytogenetic Map1313q31.1-33.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13443867
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-11-12
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.