Variant #0000235412 (NC_000023.10:g.(29488607_30275904)_(30353407_30358281)dup, NR0B1(NM_000475.4):c.(?_-1)_(*1_?)dup)

Individual ID 00143753
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.(29488607_30275904)_(30353407_30358281)dup
DNA change (hg38) -
Published as hg18 :g.(29398528_30185825)_(30263328_30268202)dup
ISCN -
DB-ID NR0B1_000116
Variant remarks -
Reference PubMed: Oshima 2009
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 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_?)dup r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144611 DNA arrayCGH;MLPA - - DMD 3 Johan den Dunnen