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Variant : CV163644 (GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3) Homo sapiens

Symbol: CV163644
Name: GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3
Condition: See cases [RCV000142107]
Clinical Significance: likely pathogenic
Last Evaluated: 10/17/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCC5   ABCC5-AS1   ABCF3   ACTL6A   ACTRT3   ADIPOQ   ADIPOQ-AS1   AHSG   ALG3   AP2M1   ATP11B   B3GNT5   BCL6   C3orf70   CAMK2N2   CCDC39   CHRD   CLCN2   CLDN11   CRYGS   DCUN1D1   DGKG   DNAJB11   DNAJC19   DVL3   ECE2   ECT2   EEF1AKMT4   EEF1AKMT4-ECE2   EHHADH   EHHADH-AS1   EIF2B5   EIF4A2   EIF4G1   EIF5A2   EPHB3   ETV5   FAM131A   FETUB   FLJ42393   FNDC3B   FXR1   GHSR   GNB4   GOLIM4   GPR160   HRG   HTR3C   HTR3D   HTR3E   HTR3E-AS1   IGF2BP2   IGF2BP2-AS1   KCNMB2   KCNMB2-AS1   KCNMB3   KLHL24   KLHL6   KLHL6-AS1   KNG1   LAMP3   LINC00501   LINC00578   LINC00888   LINC01014   LINC01206   LINC01208   LINC01209   LINC01839   LINC01840   LINC01991   LINC01994   LINC01995   LINC01997   LINC02015   LINC02020   LINC02031   LINC02041   LINC02043   LINC02052   LINC02053   LINC02054   LINC02068   LINC02069   LINC02082   LIPH   LPP   LPP-AS2   LRRC31   LRRC34   LRRIQ4   MAGEF1   MAP3K13   MAP6D1   MASP1   MCCC1   MCF2L2   MECOM   MECOM-AS1   MFN1   MIR1224   MIR1248   MIR4448   MIR4789   MIR548AQ   MIR551B   MIR5588   MIR569   MIR6828   MIR7977   MRPL47   MYNN   NAALADL2   NAALADL2-AS1   NAALADL2-AS2   NAALADL2-AS3   NCEH1   NDUFB5   NLGN1   NLGN1-AS1   PARL   PDCD10   PEX5L   PEX5L-AS2   PHC3   PIK3CA   PLD1   POLR2H   PRKCI   PSMD2   RFC4   RPL22L1   RPL39L   RTP1   RTP2   RTP4   SAMD7   SEC62   SENP2   SERPINI1   SKIL   SLC2A2   SLC7A14   SLC7A14-AS1   SNORA4   SNORA63   SNORA63B   SNORA63D   SNORA63E   SNORA81   SNORD2   SNORD66   SOX2   SOX2-OT   SPATA16   SST   ST6GAL1   TBCCD1   TBL1XR1   TERC   THPO   TMEM212   TMEM212-AS1   TMEM41A   TNFSF10   TNIK   TRA2B   TRV-AAC1-1   TTC14   USP13   VPS8   VWA5B2   YEATS2   YEATS2-AS1   ZMAT3   ZNF639  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_167717962)_(188365272_?)dup
NC_000003.11:g.(?_167435750)_(188083060_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383167,717,962 - 188,365,272CLINVAR
GRCh373167,435,750 - 188,083,060CLINVAR
Build 363168,918,444 - 189,565,754CLINVAR
Cytogenetic Map33q26.1-28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489627
Created: 2014-09-09
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.