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Variant : CV156055 (GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1) Homo sapiens

Symbol: CV156055
Name: GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1
Condition: See cases [RCV000135609]
Clinical Significance: likely pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACY3   AIP   ALDH3B1   ALDH3B2   ANKRD13D   C11orf24   C11orf72   CABP2   CABP4   CARNS1   CDK2AP2   CHKA   CLCF1   CORO1B   CPT1A   GAL   GPR152   GRK2   GSTP1   IGHMBP2   KDM2A   KMT5B   LINC02754   LRP5   MIR3164   MIR4691   MIR6752   MIR6753   MIR7113   MRGPRD   MRGPRF   MRGPRF-AS1   MRPL21   MYEOV   NDUFS8   NDUFV1   NUDT8   PITPNM1   POLD4   PPP1CA   PPP6R3   PTPRCAP   RAD9A   RPS6KB2   SMIM38   SSH3   TBC1D10C   TBX10   TCIRG1   TESMIN   TMEM134   TPCN2   UNC93B1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_67217264)_(69448598_?)del
NC_000011.9:g.(?_66984735)_(69263366_?)del
NC_000011.8:g.(?_66741311)_(68972547_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381167,217,264 - 69,448,598CLINVAR
GRCh371166,984,735 - 69,263,366CLINVAR
Build 361166,741,311 - 68,972,547CLINVAR
Cytogenetic Map1111q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483181
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.