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.

4 entries on 1 page. Showing entries 1 - 4.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_3_ c.-1687_*240{0} r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_92845157)_(93679748_?)del - 92845157–93679748del - NR2F1_000043 0.83 Mb deletion; variant on paternal allele, father (unaffected) not avialable PubMed: Bosch 2014, Journal: Bosch 2014 - - Unknown - - - 0 - DNA arraySNP - - CVI Individual 4 PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >24y 0 - - 1 Marc Ferre
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 Parent #1 - likely pathogenic (dominant) g.(?_92856299)_(93054636_?)del - 92856299_93054636 del - NR2F1_000043 0.2Mb deletion PubMed: Chen 2016 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 16 PubMed: Chen 2016 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 Parent #1 - likely pathogenic (dominant) g.(?_92910393)_(93806933_?)del - 92910393_93806933del - NR2F1_000043 0.9Mb deletion PubMed: Chen 2016 - - Unknown yes - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 17 PubMed: Chen 2016 - M ? ? (unknown) - - - - - 2 Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 Paternal (confirmed) - likely pathogenic (dominant) g.(?_92910393)_(93806933_?)del - - - NR2F1_000043 0.9Mb deletion PubMed: Chen 2016 - - Uniparental disomy, paternal allele yes - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 18 PubMed: Chen 2016 - M no ? (unknown) - - - - - 1 Benjamin Billiet
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