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Variant : CV158713 (GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1) Homo sapiens

Symbol: CV158713
Name: GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1
Condition: See cases [RCV000138024]
Clinical Significance: pathogenic
Last Evaluated: 12/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD13   ARGLU1   BIVM   BIVM-ERCC5   CCDC168   CLYBL   CLYBL-AS1   CLYBL-AS2   DAOA   DAOA-AS1   DOCK9   DOCK9-AS1   DOCK9-DT   EFNB2   ERCC5   FAM155A   FAM155A-IT1   FARP1   FGF14   FGF14-AS1   FGF14-AS2   FGF14-IT1   GGACT   GPR18   GPR183   IPO5   ITGBL1   LIG4   LINC00343   LINC00411   LINC00443   LINC00449   LINC00460   LINC00551   LINC00554   LINC01039   LINC01232   LINC01309   MBNL2   METTL21C   MIR1267   MIR2681   MIR3170   MIR4306   MIR4705   MIR623   MYO16   NALCN   NALCN-AS1   PCCA   PCCA-AS1   PCCA-DT   POGLUT2   RAP2A   RNF113B   SLC10A2   SLC15A1   SNORD31B   STK24   STK24-AS1   TEX30   TM9SF2   TMTC4   TNFSF13B   TPP2   UBAC2   UBAC2-AS1   ZIC2   ZIC5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_97213871)_(109162916_?)del
NC_000013.10:g.(?_97866125)_(109815264_?)del
NC_000013.9:g.(?_96664126)_(108613265_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381397,213,871 - 109,162,916CLINVAR
GRCh371397,866,125 - 109,815,264CLINVAR
Build 361396,664,126 - 108,613,265CLINVAR
Cytogenetic Map1313q32.1-33.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485573
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.