Variant #0000067281 (NC_000005.9:g.92921068C>A, NR2F1(NM_005654.4):c.339C>A)

Individual ID 00039410
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.92921068C>A
DNA change (hg38) g.93585362C>A
Published as -
ISCN -
DB-ID NR2F1_000001 See all 2 reported entries
Variant remarks -
Reference PubMed: Bosch 2014, Journal: Bosch 2014, OMIM:var0002, PubMed: Bosch 2016, Journal: Bosch 2016
ClinVar ID -
dbSNP ID rs587777275
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 Danielle Bosch
Database submission license No license selected
Created by Danielle Bosch
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NR2F1 NM_005654.4 +/. 1 c.339C>A r.(?) p.(Ser113Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000039652 DNA SEQ-NG - - ACP6, NR2F1 2 Danielle Bosch