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Variant : CV155823 (GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3) Homo sapiens

Symbol: CV155823
Name: GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3
Condition: See cases [RCV000135398]
Clinical Significance: pathogenic
Last Evaluated: 07/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD1   ACP1   ADAM17   ADCY3   ADGRF3   ADI1   AGBL5   AGBL5-AS1   ALKAL2   ALLC   APOB   ASAP2   ASXL2   ATAD2B   ATP6V1C2   ATRAID   BABAM2   BABAM2-AS1   C2orf16   C2orf50   CAD   CCDC121   CENPA   CENPO   CGREF1   CIB4   CMPK2   COLEC11   CPSF3   CYS1   DCDC2C   DDX1   DNAJC27   DNAJC27-AS1   DNAJC5G   DNMT3A   DPYSL5   DRC1   DTNB   DTNB-AS1   E2F6   EFR3B   EIF2B4   EIPR1   EMILIN1   FAM110C   FAM166C   FAM228A   FAM228B   FAM49A   FKBP1B   FLJ33534   FNDC4   FOSL2   GACAT3   GAREM2   GCKR   GDF7   GEN1   GPN1   GREB1   GRHL1   GTF3C2   GTF3C2-AS1   HADHA   HADHB   HPCAL1   HS1BP3   HS1BP3-IT1   IAH1   ID2   ID2-AS1   IFT172   ITGB1BP1   ITSN2   KCNF1   KCNK3   KCNS3   KHK   KIDINS220   KIF3C   KLF11   KLHL29   KRTCAP3   LAPTM4A   LAPTM4A-DT   LDAH   LINC00276   LINC00298   LINC00299   LINC00487   LINC00570   LINC00954   LINC01115   LINC01246   LINC01247   LINC01248   LINC01249   LINC01250   LINC01304   LINC01376   LINC01381   LINC01460   LINC01804   LINC01808   LINC01810   LINC01814   LINC01822   LINC01830   LINC01865   LINC01871   LINC01874   LINC01875   LINC01884   LINC01939   LINC01954   LINC02850   LOC400940   LPIN1   LRATD1   MAPRE3   MAPRE3-AS1   MATN3   MBOAT2   MFSD2B   MIR1301   MIR3125   MIR3681   MIR3681HG   MIR4261   MIR4262   MIR4263   MIR4429   MIR4757   MIR548S   MIR7158   MIR7515   MIR7515HG   MPV17   MRPL33   MSGN1   MYCN   MYCNOS   MYCNUT   MYT1L   MYT1L-AS1   NBAS   NCOA1   NOL10   NRBP1   NRIR   NT5C1B   NT5C1B-RDH14   NTSR2   ODC1   ODC1-DT   OSR1   OST4   OTOF   PDIA6   PFN4   POMC   PPM1G   PREB   PRR30   PTRHD1   PUM2   PXDN   RAB10   RAD51AP2   RBKS   RDH14   RHOB   RNASEH1   RNASEH1-AS1   RNF144A   RNF144A-AS1   ROCK2   RPS7   RRM2   RSAD2   SDC1   SELENOI   SF3B6   SH3YL1   SILC1   SLC30A3   SLC35F6   SLC4A1AP   SLC5A6   SLC66A3   SMC6   SNORA80B   SNTG2   SNTG2-AS1   SNX17   SOX11   SUPT7L   TAF1B   TCF23   TDRD15   TMEM18   TMEM18-DT   TMEM214   TP53I3   TPO   TRA-AGC8-1   TRAPPC12   TRIB2   TRIM54   TRY-GTA2-1   TTC32   UBXN2A   UCN   VSNL1   WDCP   WDR35   YWHAQ   ZNF512   ZNF513  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_30341)_(28419664_?)dup
NC_000002.11:g.(?_30341)_(28642531_?)dup
NC_000002.10:g.(?_20341)_(28496035_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38230,341 - 28,419,664CLINVAR
GRCh37230,341 - 28,642,531CLINVAR
Build 36220,341 - 28,496,035CLINVAR
Cytogenetic Map22p25.3-23.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482971
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.