Variant #0000181612 (NC_000023.10:g.30327086dup, NR0B1(NM_000475.4):c.395dup)

Individual ID 00112422
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.30327086dup
DNA change (hg38) g.30308969dup
Published as -
ISCN -
DB-ID NR0B1_000075
Variant remarks -
Reference PubMed: Domenice 2001
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.395dup r.(?) p.(Cys132TrpfsTer6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112880 DNA SEQ - - NR0B1 1 Bert Bakker