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Variant : CV73367 (GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1) Homo sapiens

Symbol: CV73367
Name: GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1
Condition: Intellectual functioning disability [RCV000052560]|See cases [RCV000052560]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CCDC141   CERKL   CWC22   DNAJC10   DUSP19   FRZB   ITGA4   ITPRID2   LINC01934   MIR1258   MIR4437   MIR548AE1   NCKAP1   NEUROD1   NUP35   PDE1A   PPP1R1C   SCHLAP1   SESTD1   UBE2E3   ZNF385B   ZNF804A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_178880151)_(185352829_?)del
NC_000002.11:g.(?_179744878)_(186217556_?)del
NC_000002.10:g.(?_179453123)_(185925801_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382178,880,151 - 185,352,829CLINVAR
GRCh372179,744,878 - 186,217,556CLINVAR
Build 362179,453,123 - 185,925,801CLINVAR
Cytogenetic Map22q31.2-32.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619536
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
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.