All variants in the RORC gene

Information The variants shown are described using the NM_001001523.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.190C>T r.(?) p.(His64Tyr) - VUS g.151789185G>A g.151816709G>A RORC(NM_005060.3):c.253C>T (p.H85Y), RORC(NM_005060.4):c.253C>T (p.H85Y) - RORC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.190C>T r.(?) p.(His64Tyr) - likely benign g.151789185G>A g.151816709G>A RORC(NM_005060.3):c.253C>T (p.H85Y), RORC(NM_005060.4):c.253C>T (p.H85Y) - RORC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.190C>T r.(?) p.(His64Tyr) - VUS g.151789185G>A g.151816709G>A - - RORC_000007 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142141845 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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