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Variant : CV72361 (GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1) Homo sapiens

Symbol: CV72361
Name: GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1
Condition: Global developmental delay [RCV000051506]|See cases [RCV000051506]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ATG7   ATP2B2   ATP2B2-IT2   BRK1   FANCD2   FANCD2OS   GHRL   GHRLOS   HRH1   IRAK2   LINC00606   LINC00852   MIR12127   MIR378B   MIR885   SEC13   SLC6A1   SLC6A1-AS1   SLC6A11   SYN2   TAMM41   TATDN2   TIMP4   VGLL4   VHL  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_10019780)_(12251358_?)del
Human AssemblyChrPosition (strand)Source
GRCh38310,019,780 - 12,251,358CLINVAR
GRCh37310,061,464 - 12,292,857CLINVAR
Build 36310,036,464 - 12,267,857CLINVAR
Cytogenetic Map33p25.3-25.2CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8618521
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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