Variant #0000307203 (NC_000001.10:g.151787451C>T, RORC(NM_001001523.1):c.686G>A)

Chromosome 1
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.151787451C>T
DNA change (hg38) g.151814975C>T
Published as RORC(NM_005060.4):c.749G>A (p.S250N)
ISCN -
DB-ID RORC_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00348 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RORC NM_001001523.1 -?/. - c.686G>A r.(?) p.(Ser229Asn)