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Variant : CV549494 (Single allele) Homo sapiens

Symbol: CV549494
Name: Single allele
Condition: 1q24q25 microdeletion syndrome [RCV000754969]
Clinical Significance: pathogenic
Last Evaluated: 05/01/2018
Review Status: criteria provided, single submitter
Related Genes: ANKRD45   ATP1B1   BLZF1   C1orf105   C1orf112   CACYBP   CCDC181   CENPL   DARS2   DNM3   DNM3OS   EEF1AKNMT   F5   FASLG   FMO1   FMO2   FMO3   FMO4   GAS5   GORAB   GPR52   KIAA0040   KIFAP3   KLHL20   METTL11B   METTL18   MIR199A2   MIR214   MIR3120   MROH9   MRPS14   MYOC   NME7   PIGC   PRDX6   PRRC2C   PRRX1   RABGAP1L   RC3H1   SCYL3   SELE   SELL   SELP   SERPINC1   SLC19A2   SLC9C2   SUCO   TNFSF18   TNFSF4   TNN   TNR   VAMP4   ZBTB37  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh371169,095,250 - 175,778,910CLINVAR
Cytogenetic Map11q24.2-25.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14393076
Created: 2019-03-12
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.