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Variant : CV158651 (GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1) Homo sapiens

Symbol: CV158651
Name: GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1
Condition: See cases [RCV000137962]
Clinical Significance: pathogenic|likely benign
Last Evaluated: 11/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADIPOQ   ADIPOQ-AS1   ATP13A3   ATP13A4   ATP13A4-AS1   ATP13A5   ATP13A5-AS1   BCL6   CCDC50   CLDN1   CLDN16   CPN2   EIF4A2   FGF12   FGF12-AS1   FGF12-AS2   FGF12-AS3   FLJ42393   GMNC   GP5   HES1   IL1RAP   LINC00887   LINC01991   LINC02013   LINC02026   LINC02028   LINC02036   LINC02037   LINC02038   LINC02041   LINC02043   LINC02048   LPP   LPP-AS1   LPP-AS2   LRRC15   MASP1   MB21D2   MIR1248   MIR28   MIR944   OPA1   OPA1-AS1   OSTN   OSTN-AS1   P3H2   P3H2-AS1   PLAAT1   PYDC2   RFC4   RPL39L   RTP1   RTP2   RTP4   SNAR-I   SNORA4   SNORA63   SNORA63B   SNORA81   SNORD2   SST   ST6GAL1   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.(?_186765148)_(194409416_?)del
NC_000003.11:g.(?_186482937)_(194130145_?)del
NC_000003.10:g.(?_187965631)_(195611434_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383186,765,148 - 194,409,416CLINVAR
GRCh373186,482,937 - 194,130,145CLINVAR
Build 363187,965,631 - 195,611,434CLINVAR
Cytogenetic Map33q27.3-29CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485511
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.