Variant #0000693798 (NC_000005.9:g.92924127_92924128del, NR2F1(NM_005654.4):c.968_969del)

Individual ID 00311090
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.92924127_92924128del
DNA change (hg38) -
Published as 967_968delAA
ISCN -
DB-ID NR2F1_000061
Variant remarks -
Reference PubMed: Bertacchi 2020
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 +?/. - c.968_969del r.(?) p.(Lys323Serfs*73)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312241 DNA SEQ-NG - - NR2F1 1 Benjamin Billiet