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Variant : CV72413 (GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3) Homo sapiens

Symbol: CV72413
Name: GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3
Condition: Global developmental delay [RCV000051558]|See cases [RCV000051558]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CSRP1   ELF3   ELF3-AS1   IGFN1   IPO9   IPO9-AS1   LAD1   LMOD1   MIR1231   MIR5191   MIR6739   MIR6740   NAV1   PHLDA3   PKP1   RNPEP   SHISA4   SNORA70H   TIMM17A   TNNI1   TNNT2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_201226425)_(202014204_?)dup
NC_000001.10:g.(?_201195553)_(201983332_?)dup
NC_000001.9:g.(?_199462176)_(200249955_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381201,226,425 - 202,014,204CLINVAR
GRCh371201,195,553 - 201,983,332CLINVAR
Build 361199,462,176 - 200,249,955CLINVAR
Cytogenetic Map11q32.1CLINVAR
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
 
RGD Object Information
RGD ID: 8618573
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.