Variant #0000071858 (NC_000005.9:g.92923914T>C, NR2F1(NM_005654.4):c.755T>C)

Individual ID 00043807
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.92923914T>C
DNA change (hg38) g.93588208T>C
Published as -
ISCN -
DB-ID NR2F1_000003
Variant remarks -
Reference PubMed: Bosch 2014, Journal: Bosch 2014, OMIM:var0003
ClinVar ID -
dbSNP ID rs587777276
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 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 +/. 2 c.755T>C r.(?) p.(Leu252Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000044052 DNA SEQ - - NR2F1 1 Marc Ferre