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Variant : CV550863 (Single allele) Homo sapiens

Symbol: CV550863
Name: Single allele
Condition: Deafness, autosomal dominant 56 [RCV000678024]
Clinical Significance: uncertain significance
Last Evaluated: 04/12/2018
Review Status: criteria provided, single submitter
Related Genes: DELEC1   PAPPA   TNC   TNFSF8  
Variant Type: duplication (SO:1000035)
Evidence: provider interpretation
Human AssemblyChrPosition (strand)Source
GRCh379117,666,205 - 119,059,572CLINVAR
Cytogenetic Map99q32-33.1CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13784192
Created: 2018-09-11
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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