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Variant : CV156367 (GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1) Homo sapiens

Symbol: CV156367
Name: GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1
Condition: See cases [RCV000135876]
Clinical Significance: pathogenic
Last Evaluated: 10/20/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANKAR   ANKRD44   ANKRD44-AS1   ANKRD44-IT1   AOX1   ASDURF   ASNSD1   BOLL   BZW1   BZW1-AS1   C2orf66   C2orf69   C2orf88   CALCRL   CAVIN2   CAVIN2-AS1   CCDC150   CLK1   COL3A1   COL5A2   COQ10B   DIRC1   DNAH7   FAM126B   FAM171B   FTCDNL1   GLS   GTF3C3   GULP1   HECW2   HECW2-AS1   HIBCH   HSPD1   HSPE1   HSPE1-MOB4   INPP1   ITGAV   KCTD18   LINC01090   LINC01473   LINC01790   LINC01792   LINC01821   LINC01827   LINC01877   LINC01923   MAIP1   MARS2   MFSD6   MIR1245A   MIR1245B   MIR3129   MIR3606   MIR561   MOB4   MSTN   MYO1B   NAB1   NABP1   NEMP2   NIF3L1   ORC2   ORMDL1   OSGEPL1   OSGEPL1-AS1   PCGEM1   PGAP1   PLCL1   PMS1   PPIL3   RFTN2   SATB2   SATB2-AS1   SF3B1   SGO2   SLC39A10   SLC40A1   SNORA105B   SPATS2L   STAT1   STAT4   STK17B   TFPI   TMEFF2   TYW5   WDR75   ZC3H15   ZSWIM2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_186027472)_(201059372_?)del
Human AssemblyChrPosition (strand)Source
GRCh382186,027,472 - 201,059,372CLINVAR
GRCh372186,892,199 - 201,924,095CLINVAR
Build 362186,600,444 - 201,632,340CLINVAR
Cytogenetic Map22q32.1-33.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9483442
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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