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Variant : CV801254 (Single allele) Homo sapiens

Symbol: CV801254
Name: Single allele
Condition: Paris-Trousseau thrombocytopenia [RCV001003843]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACAD8   ACRV1   ADAMTS15   ADAMTS8   AP001993.1   APLP2   ARHGAP32   B3GAT1   BARX2   C11orf45   CCDC15   CDON   CHEK1   DCPS   DDX25   EI24   ESAM   ETS1   FAM118B   FEZ1   FLI1   FOXRED1   GLB1L2   GLB1L3   HEPACAM   HEPN1   HYLS1   IGSF9B   JAM3   KCNJ1   KCNJ5   KIRREL3   LINC02714   LINC02743   LINC02873   MSANTD2   NCAPD3   NFRKB   NRGN   NTM   OPCML   OR8A1   OR8B12   OR8B2   OR8B3   OR8B4   OR8B8   PANX3   PATE1   PATE2   PATE3   PATE4   PKNOX2   PRDM10   PUS3   ROBO3   ROBO4   RPUSD4   SIAE   SLC37A2   SNX19   SPA17   SPATA19   SRPRA   ST14   ST3GAL4   STT3A   TBRG1   THYN1   TIRAP   TMEM218   TMEM45B   TP53AIP1   VPS26B   VSIG2   ZBTB44  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh3711124,226,940 - 134,944,477CLINVAR
Cytogenetic Map1111q24.2-25CLINVAR
Trait Synonyms: CHROMOSOME 11q23 DELETION SYNDROME; Paris-Trousseau syndrome



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 21404897
Created: 2020-03-10
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.