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Variant : CV165151 (GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1) Homo sapiens

Symbol: CV165151
Name: GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1
Condition: See cases [RCV000143464]
Clinical Significance: likely pathogenic
Last Evaluated: 06/18/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BCL6   CCDC50   CLDN1   CLDN16   FGF12   FLJ42393   GMNC   IL1RAP   LINC01991   LINC02013   LINC02041   LPP   LPP-AS1   LPP-AS2   MIR28   MIR944   OSTN   OSTN-AS1   P3H2   P3H2-AS1   PYDC2   RTP2   SNAR-I   SST   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.(?_187434386)_(192142942_?)del
NC_000003.11:g.(?_187152174)_(191860731_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383187,434,386 - 192,142,942CLINVAR
GRCh373187,152,174 - 191,860,731CLINVAR
Build 363188,634,868 - 193,343,425CLINVAR
Cytogenetic Map33q27.3-28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491062
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.