Variant #0000307200 (NC_000001.10:g.151780099T>C, RORC(NM_001001523.1):c.1343A>G)

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.151780099T>C
DNA change (hg38) g.151807623T>C
Published as RORC(NM_005060.4):c.1406A>G (p.K469R)
ISCN -
DB-ID RORC_000002
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) 0.00589 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.1343A>G r.(?) p.(Lys448Arg)
LINGO4 NM_001004432.2 -?/. - c.-2407A>G r.(?) p.(=)