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Variant : CV613899 (GRCh37/hg19 11q25(chr11:133325079-134157243)) Homo sapiens

Symbol: CV613899
Name: GRCh37/hg19 11q25(chr11:133325079-134157243)
Condition: 11q partial monosomy syndrome [RCV000767603]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ACAD8   GLB1L3   IGSF9B   JAM3   LINC02743   NCAPD3   OPCML   SPATA19   THYN1   VPS26B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3711133,325,079 - 134,157,243CLINVAR
Cytogenetic Map1111q25CLINVAR
Trait Synonyms: Chromosome 11q deletion syndrome; Jacobsen Distal 11q Deletion Syndrome



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14399270
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.