Variant #0000293252 (NC_000005.9:g.92920966G>C, NR2F1(NM_005654.4):c.237G>C)

Chromosome 5
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.92920966G>C
DNA change (hg38) g.93585260G>C
Published as NR2F1(NM_005654.5):c.237G>C (p.Q79H)
ISCN -
DB-ID NR2F1_000008 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0004 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NR2F1 NM_005654.4 -?/. - c.237G>C r.(?) p.(Gln79His)