Variant #0000181656 (NC_000023.10:g.30326642del, NR0B1(NM_000475.4):c.839del)

Individual ID 00112468
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.30326642del
DNA change (hg38) g.30308525del
Published as -
ISCN -
DB-ID NR0B1_000018
Variant remarks -
Reference PubMed: Yanase 1996; OMIM:var0007
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site MspI+
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.839del r.(?) p.(Leu280ArgfsTer92)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112926 DNA SEQ - - NR0B1 1 Bert Bakker