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Variant : CV163280 (GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1) Homo sapiens

Symbol: CV163280
Name: GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1
Condition: See cases [RCV000141881]
Clinical Significance: pathogenic
Last Evaluated: 07/01/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: C3orf38   CADM2   CADM2-AS1   CADM2-AS2   CGGBP1   CHMP2B   CNTN3   CSNKA2IP   EPHA3   FRG2C   GBE1   HTR1F   LINC00506   LINC00960   LINC00971   LINC02005   LINC02008   LINC02018   LINC02025   LINC02027   LINC02047   LINC02050   LINC02070   LINC02077   MIR1324   MIR3923   MIR4273   MIR4444-2   MIR4795   MIR5688   POU1F1   ROBO1   ROBO2   SNORA95   VGLL3   ZNF654   ZNF717  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_73824871)_(90453699_?)del
NC_000003.11:g.(?_73874022)_(90502849_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38373,824,871 - 90,453,699CLINVAR
GRCh37373,874,022 - 90,502,849CLINVAR
Build 36373,956,712 - 90,585,539CLINVAR
Cytogenetic Map33p13-11.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489404
Created: 2014-09-09
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.