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Variant : CV73488 (GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1) Homo sapiens

Symbol: CV73488
Name: GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1
Condition: See cases [RCV000052683]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACY3   AIP   ALDH3B1   ALDH3B2   C11orf24   C11orf72   CABP2   CABP4   CDK2AP2   CHKA   GPR152   GSTP1   KMT5B   LINC02754   LOC112081413   LRP5   MIR4691   MIR6752   MIR6753   MIR7113   NDUFS8   NDUFV1   NUDT8   PITPNM1   PPP6R3   TBX10   TCIRG1   TMEM134   UNC93B1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_67446153)_(68679073_?)del
Human AssemblyChrPosition (strand)Source
GRCh381167,446,153 - 68,679,073CLINVAR
GRCh371167,213,624 - 68,446,541CLINVAR
Build 361166,970,200 - 68,203,117CLINVAR
Cytogenetic Map1111q13.2CLINVAR
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
RGD Object Information
RGD ID: 8619658
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE


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