Variant #0000693799 (NC_000005.9:g.(?_92717119)_(93298594_?)del, NR2F1(NM_005654.4):c.-1687_*240{0})

Individual ID 00311091
Chromosome 5
Allele Parent #1
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.(?_92717119)_(93298594_?)del
DNA change (hg38) -
Published as hg18 del 92,742,875 to 93,324,350 bp
ISCN -
DB-ID NR2F1_000049
Variant remarks 582 kb deletion incl. FLJ42709, NR2F1, FAM172A, POU5F2, MIR2277
Reference PubMed: Al-Kateb 2013
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation ?
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     
0000312242 DNA SEQ-NG - - - 1 Benjamin Billiet