Variant #0000181571 (NC_000023.10:g.30327367G>A, NR0B1(NM_000475.4):c.114C>T)

Individual ID 00112407
Chromosome X
Allele Maternal (inferred)
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.30327367G>A
DNA change (hg38) g.30309250G>A
Published as -
ISCN -
DB-ID NR0B1_000110 See all 2 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 rs6150
Origin Germline
Segregation -
Frequency 34/208
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.15145 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.114C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112865 DNA SEQ - - NR0B1 1 Johan den Dunnen