Variant #0000647379 (NC_000001.10:g.151789185G>A, RORC(NM_001001523.1):c.190C>T)

Individual ID 00289522
Chromosome 1
Allele Parent #1
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.151789185G>A
DNA change (hg38) g.151816709G>A
Published as -
ISCN -
DB-ID RORC_000007 See all 3 reported entries
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs142141845
Origin Germline
Segregation -
Frequency 1/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00032 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RORC NM_001001523.1 ?/. - c.190C>T r.(?) p.(His64Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290690 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq