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Variant : CV156113 (GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1) Homo sapiens

Symbol: CV156113
Name: GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1
Condition: See cases [RCV000135665]
Clinical Significance: likely pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALS2   AOX1   BOLL   BZW1   BZW1-AS1   C2CD6   C2orf69   CASP10   CASP8   CDK15   CFLAR   CFLAR-AS1   CLK1   COQ10B   FAM126B   FLACC1   FTCDNL1   FZD7   HSPD1   HSPE1   HSPE1-MOB4   KCTD18   KIAA2012   KIAA2012-AS1   LINC01792   LINC01877   LINC01923   MAIP1   MARS2   MOB4   MPP4   NDUFB3   NIF3L1   ORC2   PLCL1   PPIL3   RFTN2   SATB2   SATB2-AS1   SF3B1   SGO2   SNORA105B   SPATS2L   STRADB   TMEM237   TRAK2   TYW5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_197400023)_(202089348_?)del
NC_000002.11:g.(?_198264747)_(202954071_?)del
NC_000002.10:g.(?_197972992)_(202662316_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382197,400,023 - 202,089,348CLINVAR
GRCh372198,264,747 - 202,954,071CLINVAR
Build 362197,972,992 - 202,662,316CLINVAR
Cytogenetic Map22q33.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483237
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.