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Variant : CV613898 (GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)) Homo sapiens

Symbol: CV613898
Name: GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)
Condition: 11q partial monosomy syndrome [RCV000767602]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ACAD8   ACRV1   ADAMTS15   ADAMTS8   AP001993.1   APLP2   ARHGAP32   B3GAT1   BARX2   C11orf45   CDON   CHEK1   DCPS   DDX25   EI24   ETS1   FAM118B   FLI1   FOXRED1   GLB1L2   GLB1L3   HYLS1   IGSF9B   JAM3   KCNJ1   KCNJ5   KIRREL3   LINC02714   LINC02743   LINC02873   NCAPD3   NFRKB   NTM   OPCML   PATE1   PATE2   PATE3   PATE4   PRDM10   PUS3   RPUSD4   SNX19   SPATA19   SRPRA   ST14   ST3GAL4   STT3A   THYN1   TIRAP   TMEM45B   TP53AIP1   VPS26B   ZBTB44  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3711125,446,101 - 134,904,063CLINVAR
Cytogenetic Map1111q24.2-25CLINVAR
Trait Synonyms: Chromosome 11q deletion syndrome; Jacobsen Distal 11q Deletion Syndrome



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14399269
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-07-28
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.