Variant #0000181605 (NC_000023.10:g.30327165_30327166insA, NR0B1(NM_000475.4):c.315_316insT)

Individual ID 00112416
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.30327165_30327166insA
DNA change (hg38) g.30309048_30309049insA
Published as -
ISCN -
DB-ID NR0B1_000008
Variant remarks -
Reference PubMed: Muscatelli 1994
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.315_316insT r.(?) p.fs*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112874 DNA SEQ - - NR0B1 1 Bert Bakker