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Variant : CV651785 (NC_000008.10:g.(?_144990325)_(145700664_?)dup) Homo sapiens

Symbol: CV651785
Name: NC_000008.10:g.(?_144990325)_(145700664_?)dup
Condition: Brown-Vialetto-Van Laere syndrome 2 [RCV000808636]
Clinical Significance: uncertain significance
Last Evaluated: 07/20/2018
Review Status: criteria provided, single submitter
Related Genes: ADCK5   BOP1   CPSF1   CYC1   CYHR1   DGAT1   EXOSC4   FBXL6   FOXH1   GPAA1   GRINA   HGH1   HSF1   KIFC2   MAF1   MIR1234   MIR661   MROH1   OPLAH   PARP10   PLEC   SCRT1   SCX   SHARPIN   SLC39A4   SLC52A2   SPATC1   TMEM249   TONSL   VPS28  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.10:g.(?_144990325)_(145700664_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh378144,990,325 - 145,700,664CLINVAR
Cytogenetic Map88q24.3CLINVAR
Trait Synonyms: Riboflavin transporter deficiency type 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14708033
Created: 2019-09-06
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.