Full data view for gene IL6R

Information The variants shown are described using the NM_000565.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.272C>T r.(?) p.(Ser91Phe) Unknown - VUS g.154401858C>T g.154429382C>T IL6R(NM_000565.3):c.272C>T (p.S91F) - IL6R_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301C>T r.(?) p.(Arg101Cys) Unknown - VUS g.154401887C>T - IL6R(NM_000565.3):c.301C>T (p.R101C) - IL6R_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.807+20C>T r.(=) p.(=) Unknown - likely benign g.154407652C>T - IL6R(NM_000565.4):c.807+20C>T - IL6R_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.846C>T r.(?) p.(Ala282=) Unknown - likely benign g.154408483C>T - IL6R(NM_000565.3):c.846C>T (p.A282=) - IL6R_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1161-4733C>A r.(=) p.(=) Unknown - VUS g.154432877C>A g.154460401C>A - - IL6R_000001 for details see the Uveogene database PubMed: Brown 2015 - rs6690230 Germline - - - 0 - DNA arraySNP Blood - uveitis - PubMed: Brown 2015 European cohort F;M - (United Kingdom (Great Britain)) European - 0 for details see the Uveogene database - 1 Peizeng Yang
-?/. - c.1173G>A r.(?) p.(Thr391=) Unknown - likely benign g.154437622G>A g.154465146G>A IL6R(NM_181359.2):c.1079G>A (p.R360H) - IL6R_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1244C>T r.(?) p.(Pro415Leu) Unknown - VUS g.154437693C>T g.154465217C>T IL6R(NM_000565.4):c.1244C>T (p.P415L) - IL6R_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1270C>T r.(?) p.(Leu424Phe) Unknown - VUS g.154437719C>T - IL6R(NM_000565.4):c.1270C>T (p.L424F) - IL6R_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1329G>A r.(?) p.(Ser443=) Unknown - likely benign g.154437778G>A - IL6R(NM_000565.3):c.1329G>A (p.S443=) - IL6R_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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