Variant #0000694116 (NC_000005.9:g.92414689_94864863del, NR2F1(NM_005654.4):c.-506041_*1935315del)

Individual ID 00311369
Chromosome 5
Allele Maternal (confirmed)
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.92414689_94864863del
DNA change (hg38) -
Published as chr5:92,414,689-94,864,863 (hg19/GRCh37)
ISCN -
DB-ID NR2F1_000063
Variant remarks -
Reference PubMed: Rech 2020
ClinVar ID -
dbSNP ID -
Origin Germline
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 +/. - c.-506041_*1935315del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312528 DNA SEQ-NG - - NR2F1 1 Benjamin Billiet