Variant #0000675477 (NC_000001.10:g.151804213G>A, RORC(NM_001001523.1):c.-5801C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.151804213G>A
DNA change (hg38) -
Published as RORC(NM_005060.3):c.28C>T (p.(Arg10*)), RORC(NM_005060.4):c.28C>T (p.R10*)
ISCN -
DB-ID RORC_000010 See all 4 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) 0.00215 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RORC NM_001001523.1 +?/. - c.-5801C>T r.(?) p.(=)