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Variant : CV550857 (Single allele) Homo sapiens

Symbol: CV550857
Name: Single allele
Condition: Witteveen-kolk syndrome [RCV000678018]
Clinical Significance: uncertain significance
Last Evaluated: 03/30/2018
Review Status: criteria provided, single submitter
Related Genes: COMMD4   CSPG4   IMP3   MAN2C1   NEIL1   ODF3L1   PTPN9   SIN3A   SNUPN   SNX33  
Variant Type: duplication (SO:1000035)
Evidence: provider interpretation
Human AssemblyChrPosition (strand)Source
GRCh371575,600,108 - 76,063,285CLINVAR
Cytogenetic Map1515q24.2CLINVAR
Trait Synonyms: 15q24 Microdeletion Syndrome

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13785968
Created: 2018-09-11
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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