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Variant : CV163485 (GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1) Homo sapiens

Symbol: CV163485
Name: GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1
Condition: See cases [RCV000142019]
Clinical Significance: pathogenic
Last Evaluated: 08/26/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCC5   ABCC5-AS1   ABCF3   ADIPOQ   ADIPOQ-AS1   AHSG   ALG3   AP2M1   ATP11B   B3GNT5   BCL6   C3orf70   CAMK2N2   CCDC50   CHRD   CLCN2   CLDN1   CLDN16   CRYGS   DCUN1D1   DGKG   DNAJB11   DVL3   ECE2   EEF1AKMT4   EEF1AKMT4-ECE2   EHHADH   EHHADH-AS1   EIF2B5   EIF4A2   EIF4G1   EPHB3   ETV5   FAM131A   FETUB   FGF12   FGF12-AS1   FLJ42393   GMNC   HRG   HTR3C   HTR3D   HTR3E   HTR3E-AS1   IGF2BP2   IGF2BP2-AS1   IL1RAP   KLHL24   KLHL6   KLHL6-AS1   KNG1   LAMP3   LINC00888   LINC01206   LINC01839   LINC01840   LINC01991   LINC01994   LINC01995   LINC02013   LINC02020   LINC02031   LINC02041   LINC02043   LINC02052   LINC02054   LINC02069   LIPH   LPP   LPP-AS1   LPP-AS2   MAGEF1   MAP3K13   MAP6D1   MASP1   MCCC1   MCF2L2   MIR1224   MIR1248   MIR28   MIR4448   MIR548AQ   MIR5588   MIR944   OSTN   OSTN-AS1   P3H2   P3H2-AS1   PARL   POLR2H   PSMD2   PYDC2   RFC4   RPL39L   RTP1   RTP2   RTP4   SENP2   SNAR-I   SNORA4   SNORA63   SNORA63B   SNORA63D   SNORA63E   SNORA81   SNORD2   SNORD66   SOX2   SOX2-OT   SST   ST6GAL1   TBCCD1   THPO   TMEM207   TMEM41A   TP63   TPRG1   TPRG1-AS1   TPRG1-AS2   TRA2B   UTS2B   VPS8   VWA5B2   YEATS2   YEATS2-AS1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_181138664)_(192512023_?)del
Human AssemblyChrPosition (strand)Source
GRCh383181,138,664 - 192,512,023CLINVAR
GRCh373180,856,452 - 192,229,812CLINVAR
Build 363182,339,146 - 193,712,506CLINVAR
Cytogenetic Map33q26.33-28CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489539
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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