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Variant : CV451527 (Single allele) Homo sapiens

Symbol: CV451527
Name: Single allele
Condition: Erythrocytosis, familial, 2 [RCV000558078]|Von Hippel-Lindau syndrome [RCV000558078]
Clinical Significance: pathogenic
Last Evaluated: 12/15/2017
Review Status: criteria provided, single submitter
Related Genes: BRK1   FANCD2   FANCD2OS   VHL  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh38310,064,723 - 10,149,971CLINVAR
Cytogenetic Map33p25.3CLINVAR
Trait Synonyms: ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN; POLYCYTHEMIA, CHUVASH TYPE; POLYCYTHEMIA, VHL-DEPENDENT; Von Hippel-Lindau syndrome



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13493293
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2020-02-20
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.