Variant #0000181621 (NC_000023.10:g.30326986_30326987dup, NR0B1(NM_000475.4):c.495_496dup)

Individual ID 00112431
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.30326986_30326987dup
DNA change (hg38) g.30308869_30308870dup
Published as -
ISCN -
DB-ID NR0B1_000070
Variant remarks -
Reference PubMed: Binder 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Bert Bakker
Database submission license No license selected
Created by Bert Bakker
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NR0B1 NM_000475.4 +/. 1 c.495_496dup r.(?) p.fs*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112889 DNA SEQ - - NR0B1 1 Bert Bakker