Variant #0000071861 (NC_000005.9:g.(?_92845157)_(93679748_?)del, NR2F1(NM_005654.4):c.-1687_*240{0})

Individual ID 00043810
Chromosome 5
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_92845157)_(93679748_?)del
DNA change (hg38) -
Published as 92845157–93679748del
ISCN -
DB-ID NR2F1_000043 See all 4 reported entries
Variant remarks 0.83 Mb deletion; variant on paternal allele, father (unaffected) not avialable
Reference PubMed: Bosch 2014, Journal: Bosch 2014
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Marc Ferre
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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     
0000044055 DNA arraySNP - - NR2F1 1 Marc Ferre