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Variant : CV72464 (GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1) Homo sapiens

Symbol: CV72464
Name: GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1
Condition: Hypertelorism [RCV000051609]|See cases [RCV000051609]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADIPOQ   ADIPOQ-AS1   AHSG   BCL6   CCDC50   CLDN1   CLDN16   CRYGS   DGKG   DNAJB11   EIF4A2   FETUB   FGF12   FLJ42393   GMNC   HRG   IL1RAP   KNG1   LINC01991   LINC02013   LINC02020   LINC02041   LINC02043   LINC02052   LPP   LPP-AS1   LPP-AS2   MASP1   MIR1248   MIR28   MIR944   OSTN   OSTN-AS1   P3H2   P3H2-AS1   PYDC2   RFC4   RPL39L   RTP1   RTP2   RTP4   SNAR-I   SNORA4   SNORA63   SNORA63B   SNORA81   SNORD2   SST   ST6GAL1   TBCCD1   TMEM207   TP63   TPRG1   TPRG1-AS1   TPRG1-AS2   UTS2B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_186204253)_(192214251_?)del
NC_000003.11:g.(?_185922042)_(191932040_?)del
NC_000003.10:g.(?_187404736)_(193414734_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383186,204,253 - 192,214,251CLINVAR
GRCh373185,922,042 - 191,932,040CLINVAR
Build 363187,404,736 - 193,414,734CLINVAR
Cytogenetic Map33q27.2-28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618624
Created: 2014-05-13
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.