Variant #0000684821 (NC_000023.10:g.30327105C>T, NR0B1(NM_000475.4):c.376G>A)

Individual ID 00308774
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.30327105C>T
DNA change (hg38) g.30308988C>T
Published as -
ISCN -
DB-ID NR0B1_000032 See all 4 reported entries
Variant remarks classification based on frequency in 305 unrelated individuals
Reference PubMed: Le 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency frequency 0.044
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0027 View details
Owner Global Variome, with Curator vacancy
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     
NR0B1 NM_000475.4 -?/. - c.376G>A r.(?) p.(Val126Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309919 DNA SEQ;SEQ-NG - 105 WGS/200 WES NR0B1 1 Global Variome, with Curator vacancy