Variant #0000181609 (NC_000023.10:g.30327105C>T, NR0B1(NM_000475.4):c.376G>A)

Individual ID 00112420
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.30327105C>T
DNA change (hg38) g.30308988C>T
Published as -
ISCN -
DB-ID NR0B1_000032 See all 4 reported entries
Variant remarks -
Reference PubMed: Kinoshita 1997
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0027 View details
Owner Bert Bakker
Database submission license No license selected
Created by Bert Bakker
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NR0B1 NM_000475.4 ?/. 1 c.376G>A r.(?) p.(Val126Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112878 DNA SEQ - - NR0B1 2 Bert Bakker