Full data view for gene RORC

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-5801C>T r.(?) p.(=) Unknown - VUS g.151804213G>A g.151831737G>A RORC(NM_005060.3):c.28C>T (p.(Arg10*)), RORC(NM_005060.4):c.28C>T (p.R10*) - RORC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5801C>T r.(?) p.(=) Unknown - VUS g.151804213G>A g.151831737G>A RORC(NM_005060.3):c.28C>T (p.(Arg10*)), RORC(NM_005060.4):c.28C>T (p.R10*) - RORC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-5801C>T r.(?) p.(=) Unknown - likely pathogenic g.151804213G>A - RORC(NM_005060.3):c.28C>T (p.(Arg10*)), RORC(NM_005060.4):c.28C>T (p.R10*) - RORC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190C>T r.(?) p.(His64Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.190C>T r.(?) p.(His64Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190C>T r.(?) p.(His64Tyr) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.264G>A r.(?) p.(Lys88=) Unknown - likely benign g.151787873C>T g.151815397C>T RORC(NM_005060.4):c.327G>A (p.K109=) - RORC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.686G>A r.(?) p.(Ser229Asn) Unknown - likely benign g.151787451C>T g.151814975C>T RORC(NM_005060.4):c.749G>A (p.S250N) - RORC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.749-9C>T r.(=) p.(=) Unknown - likely benign g.151787180G>A - RORC(NM_005060.3):c.812-9C>T - RORC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.800G>A r.(?) p.(Arg267Gln) Unknown - likely benign g.151787120C>T g.151814644C>T RORC(NM_005060.4):c.863G>A (p.R288Q) - RORC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.927C>T r.(?) p.(Tyr309=) Unknown - likely benign g.151786040G>A g.151813564G>A RORC(NM_001001523.1):c.927C>T (p.Y309=), RORC(NM_005060.3):c.990C>T (p.Y330=) - RORC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.927C>T r.(?) p.(Tyr309=) Unknown - likely benign g.151786040G>A g.151813564G>A RORC(NM_001001523.1):c.927C>T (p.Y309=), RORC(NM_005060.3):c.990C>T (p.Y330=) - RORC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1328C>G r.(?) p.(Ala443Gly) Unknown - benign g.151783805G>C g.151811329G>C RORC(NM_005060.3):c.1391C>G (p.A464G), RORC(NM_005060.4):c.1391C>G (p.A464G) - RORC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1328C>G r.(?) p.(Ala443Gly) Unknown - likely benign g.151783805G>C g.151811329G>C RORC(NM_005060.3):c.1391C>G (p.A464G), RORC(NM_005060.4):c.1391C>G (p.A464G) - RORC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1343A>G r.(?) p.(Lys448Arg) Unknown - likely benign g.151780099T>C g.151807623T>C RORC(NM_005060.4):c.1406A>G (p.K469R) - RORC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1425C>T r.(?) p.(Ala475=) Unknown - likely benign g.151780017G>A g.151807541G>A RORC(NM_005060.4):c.1488C>T (p.A496=) - RORC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*5914C>G r.(=) p.(=) Unknown - VUS g.151774034G>C g.151801558G>C LINGO4(NM_001004432.2):c.1147C>G (p.(Pro383Ala)) - LINGO4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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