Variant #0000320986 (NC_000001.10:g.151774034G>C, RORC(NM_001001523.1):c.*5914C>G)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.151774034G>C
DNA change (hg38) g.151801558G>C
Published as LINGO4(NM_001004432.2):c.1147C>G (p.(Pro383Ala))
ISCN -
DB-ID LINGO4_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) 0.00059 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.*5914C>G r.(=) p.(=)
LINGO4 NM_001004432.2 ?/. - c.1147C>G r.(?) p.(Pro383Ala)