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Variant : CV73719 (GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1) Homo sapiens

Symbol: CV73719
Name: GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1
Condition: Global developmental delay [RCV000052922]|See cases [RCV000052922]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: C5   C5-OT1   CNTRL   CRB2   DAB2IP   DENND1A   GPR21   GSN   GSN-AS1   LHX6   MIR4478   MIR600   MIR600HG   MIR601   MORN5   MRRF   NDUFA8   OR1B1   OR1J1   OR1J2   OR1J4   OR1K1   OR1L1   OR1L3   OR1L4   OR1L6   OR1L8   OR1N1   OR1N2   OR1Q1   OR5C1   PDCL   PTGS1   RAB14   RABGAP1   RBM18   RC3H2   SNORD90   STOM   STRBP   TTLL11   TTLL11-IT1   ZBTB26   ZBTB6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_120938041)_(123469664_?)del
NC_000009.11:g.(?_123700319)_(126231943_?)del
NC_000009.10:g.(?_122740140)_(125271764_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389120,938,041 - 123,469,664CLINVAR
GRCh379123,700,319 - 126,231,943CLINVAR
Build 369122,740,140 - 125,271,764CLINVAR
Cytogenetic Map99q33.2-33.3CLINVAR
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: 8619892
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.