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Variant : CV73453 (GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1) Homo sapiens

Symbol: CV73453
Name: GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1
Condition: Glaucoma [RCV000052648]|See cases [RCV000052648]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABTB2   ANO3   ANO3-AS1   APIP   ARL14EP   BBOX1   BBOX1-AS1   BDNF   BDNF-AS   C11orf91   CAPRIN1   CAT   CCDC179   CCDC34   CCDC73   CD44   CD59   COMMD9   CSTF3   CSTF3-DT   DCDC1   DEPDC7   DNAJC24   EHF   EIF3M   ELF5   ELP4   FANCF   FBXO3   FBXO3-DT   FIBIN   FJX1   FSHB   GAS2   HIPK3   IFTAP   IMMP1L   KCNA4   KIAA1549L   KIF18A   LDLRAD3   LGR4   LGR4-AS1   LIN7C   LINC00294   LINC00678   LINC01616   LINC02546   LINC02686   LINC02699   LINC02707   LINC02718   LINC02721   LINC02722   LINC02726   LINC02742   LINC02755   LINC02758   LINC02760   LINC02859   LMO2   LUZP2   METTL15   MIR1343   MIR3973   MIR610   MIR8054   MIR8068   MIR8087   MPPED2   MPPED2-AS1   MUC15   NAT10   PAMR1   PAUPAR   PAX6   PAX6-AS1   PDHX   PRR5L   PRRG4   QSER1   RAG1   RAG2   RCN1   SLC1A2   SLC5A12   SNORA88   SNORD164   SVIP   TCP11L1   TRAF6   TRIM44   WT1   WT1-AS  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_22550115)_(38199159_?)del
Human AssemblyChrPosition (strand)Source
GRCh381122,550,115 - 38,199,159CLINVAR
GRCh371122,571,661 - 38,220,709CLINVAR
Build 361122,528,237 - 38,177,285CLINVAR
Cytogenetic Map1111p14.3-12CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8619623
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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