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Variant : CV159858 (GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3) Homo sapiens

Symbol: CV159858
Name: GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3
Condition: See cases [RCV000139009]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADIPOQ   ADIPOQ-AS1   AHSG   C3orf70   CRYGS   DGKG   DNAJB11   EHHADH   EHHADH-AS1   EIF4A2   ETV5   FETUB   HRG   IGF2BP2   IGF2BP2-AS1   KNG1   LINC02020   LINC02041   LINC02043   LINC02052   LIPH   MAP3K13   MASP1   MIR1248   MIR548AQ   MIR5588   RFC4   RPL39L   RTP1   RTP4   SENP2   SNORA4   SNORA63   SNORA63B   SNORA81   SNORD2   ST6GAL1   TBCCD1   TMEM41A   TRA2B   VPS8  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_184843627)_(187461008_?)dup
Human AssemblyChrPosition (strand)Source
GRCh383184,843,627 - 187,461,008CLINVAR
GRCh373184,561,415 - 187,178,796CLINVAR
Build 363186,044,109 - 188,661,490CLINVAR
Cytogenetic Map33q27.2-27.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9486541
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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