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Variant : CV559217 (NC_000003.11:g.(?_10106403)_(10191659_?)dup) Homo sapiens

Symbol: CV559217
Name: NC_000003.11:g.(?_10106403)_(10191659_?)dup
Condition: Erythrocytosis, familial, 2 [RCV000708325]
Clinical Significance: uncertain significance
Last Evaluated: 05/18/2018
Review Status: criteria provided, single submitter
Related Genes: BRK1   FANCD2   FANCD2OS   VHL  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.11:g.(?_10106403)_(10191659_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38310,064,719 - 10,149,975CLINVAR
GRCh37310,106,403 - 10,191,659CLINVAR
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: 13819407
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-02-11
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.