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

Variant : CV555265 (GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1) Homo sapiens

Symbol: CV555265
Name: GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1
Condition: not provided [RCV000683570]
Clinical Significance: pathogenic
Last Evaluated: 08/10/2017
Review Status: no assertion criteria provided
Related Genes: ABCC4   ABHD13   ARGLU1   BIVM   BIVM-ERCC5   CCDC168   CLDN10   CLYBL   DAOA   DAOA-AS1   DCT   DNAJC3   DOCK9   DZIP1   EFNB2   ERCC5   FAM155A   FARP1   FGF14   GGACT   GPC6   GPR18   GPR180   GPR183   HS6ST3   IPO5   ITGBL1   LIG4   MBNL2   METTL21C   MYO16   NALCN   OXGR1   PCCA   POGLUT2   RAP2A   RNF113B   SLC10A2   SLC15A1   SOX21   STK24   TEX30   TGDS   TM9SF2   TMTC4   TNFSF13B   TPP2   UBAC2   UGGT2   ZIC2   ZIC5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371394,703,767 - 109,731,879CLINVAR
Cytogenetic Map1313q31.3-33.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13797051
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



NHLBI Logo

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