Variant #0000503148 (NC_000001.10:g.151787873C>T, RORC(NM_001001523.1):c.264G>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.151787873C>T
DNA change (hg38) g.151815397C>T
Published as RORC(NM_005060.4):c.327G>A (p.K109=)
ISCN -
DB-ID RORC_000009
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) 1.0E-5 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.264G>A r.(?) p.(Lys88=)