Variant #0000181623 (NC_000023.10:g.30326983C>T, NR0B1(NM_000475.4):c.498G>A)

Individual ID 00112432
Chromosome X
Allele Maternal (inferred)
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.30326983C>T
DNA change (hg38) g.30308866C>T
Published as -
ISCN -
DB-ID NR0B1_000096 See all 3 reported entries
Variant remarks recurrent variant; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID rs2269345
Origin Germline
Segregation -
Frequency 28/208
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.33272 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NR0B1 NM_000475.4 +/. 1 c.498G>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112890 DNA SEQ - - NR0B1 1 Johan den Dunnen