Variant #0000053098 (NC_000023.10:g.(28606165_28771534)_(30746860_31140035)del, NR0B1(NM_000475.4):c.(?_-1)_(*1_?)del)

Individual ID 00029663
Chromosome X
Allele Unknown
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.(28606165_28771534)_(30746860_31140035)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID NR0B1_000112
Variant remarks -
Reference PubMed: Carrie 1999
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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 +/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029706 DNA PCR - - GK, IL1RAPL1, NR0B1 3 Johan den Dunnen