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Variant : CV73411 (GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1) Homo sapiens

Symbol: CV73411
Name: GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1
Condition: See cases [RCV000052605]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABI2   ALS2   AOX1   BMPR2   BZW1   BZW1-AS1   C2CD6   CARF   CASP10   CASP8   CDK15   CFLAR   CFLAR-AS1   CLK1   CYP20A1   FAM117B   FAM126B   FLACC1   FZD7   ICA1L   KIAA2012   KIAA2012-AS1   LINC01792   MPP4   NBEAL1   NDUFB3   NIF3L1   NOP58   ORC2   PPIL3   RAPH1   SGO2   SNORD11   SNORD11B   SNORD70   SNORD70B   STRADB   SUMO1   TMEM237   TRAK2   WDR12  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_200520961)_(203566211_?)del
NC_000002.11:g.(?_201385684)_(204430934_?)del
NC_000002.10:g.(?_201093929)_(204139179_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382200,520,961 - 203,566,211CLINVAR
GRCh372201,385,684 - 204,430,934CLINVAR
Build 362201,093,929 - 204,139,179CLINVAR
Cytogenetic Map22q33.1-33.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619581
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.