Variant #0000687778 (NC_000005.9:g.(?_92910393)_(93806933_?)del, NR2F1(NM_005654.4):c.-1687_*240{0})

Individual ID 00311065
Chromosome 5
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_92910393)_(93806933_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID NR2F1_000043 See all 4 reported entries
Variant remarks 0.9Mb deletion
Reference PubMed: Chen 2016
ClinVar ID -
dbSNP ID -
Origin Uniparental disomy, paternal allele
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NR2F1 NM_005654.4 +?/. _1_3_ c.-1687_*240{0} r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312217 DNA SEQ-NG - - NR2F1 1 Benjamin Billiet