Full data view for gene NR2F1

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A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
 
Information The variants shown are described using the NM_005654.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.436T>C r.(?) p.(Cys146Arg) Unknown - likely pathogenic g.92921165T>C g.93585459T>C NR2F1(NM_005654.6):c.436T>C (p.C146R) - NR2F1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.436T>C r.(?) p.(Cys146Arg) Parent #1 - likely pathogenic (dominant) g.92921165T>C - - - NR2F1_000010 - PubMed: Chen 2016 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 5 PubMed: Chen 2016 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
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