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Variant : CV73487 (GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1) Homo sapiens

Symbol: CV73487
Name: GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1
Condition: See cases [RCV000052682]
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   ALDH3B2   ANKRD13D   C11orf72   C11orf86   CABP2   CABP4   CARNS1   CDK2AP2   CLCF1   CORO1B   GPR152   GRK2   GSTP1   KDM2A   MIR3163   MIR6752   MIR6860   NDUFV1   NUDT8   PC   PITPNM1   POLD4   PPP1CA   PTPRCAP   RAD9A   RHOD   RPS6KB2   SSH3   SYT12   TBC1D10C   TBX10   TMEM134  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_66885910)_(67698250_?)del
NC_000011.9:g.(?_66653381)_(67465721_?)del
NC_000011.8:g.(?_66409957)_(67222297_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381166,885,910 - 67,698,250CLINVAR
GRCh371166,653,381 - 67,465,721CLINVAR
Build 361166,409,957 - 67,222,297CLINVAR
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: 8619657
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-21
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.