Variant #0000682375 (NC_000023.10:g.30326881G>C, NR0B1(NM_000475.4):c.600C>G)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.30326881G>C
DNA change (hg38) -
Published as NR0B1(NM_000475.4):c.600C>G (p.C200W), NR0B1(NM_000475.5):c.600C>G (p.C200W)
ISCN -
DB-ID NR0B1_000130 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00023 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NR0B1 NM_000475.4 -?/. - c.600C>G r.(?) p.(Cys200Trp)