Variant #0000304511 (NC_000023.10:g.30327307C>T, NR0B1(NM_000475.4):c.174G>A)

Chromosome X
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.30327307C>T
DNA change (hg38) g.30309190C>T
Published as NR0B1(NM_000475.4):c.174G>A (p.R58=)
ISCN -
DB-ID NR0B1_000125
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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NR0B1 NM_000475.4 -?/. - c.174G>A r.(?) p.(Arg58=)