Full data view for gene IFNAR2

Information The variants shown are described using the NM_000874.3 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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.207G>A r.(?) p.(Leu69=) Unknown - likely benign g.34617365G>A - IFNAR2(NM_001289125.1):c.207G>A (p.L69=) - IFNAR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.395-3C>T r.spl? p.? Unknown - likely benign g.34621011C>T g.33248706C>T IFNAR2(NM_001289125.3):c.395-3C>T - IFNAR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.550G>A r.(?) p.(Glu184Lys) Unknown - likely benign g.34624976G>A g.33252671G>A IFNAR2(NM_001289125.1):c.550G>A (p.E184K) - IFNAR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.733G>C r.(?) p.(Gly245Arg) Unknown - likely benign g.34632925G>C g.33260620G>C IFNAR2(NM_001289125.1):c.733G>C (p.G245R) - IFNAR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.806A>T r.(?) p.(Tyr269Phe) Unknown - VUS g.34632998A>T - - - IFNAR2_000014 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.837C>G r.(?) p.(Val279=) Unknown - likely benign g.34633029C>G - IFNAR2(NM_207585.2):c.837C>G (p.V279=) - IFNAR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - 0 - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.966C>A r.(?) p.(Tyr322*) Unknown - VUS g.34634991C>A - - - IFNAR2_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.*83C>A r.(=) p.(=) Unknown - VUS g.34635104C>A g.33262799C>A IFNAR2(NM_001289128.1):c.716C>A (p.S239*) - IFNAR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*88C>A r.(=) p.(=) Unknown - likely benign g.34635109C>A g.33262804C>A IFNAR2(NM_001289125.1):c.852C>A (p.N284K) - IFNAR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*121G>A r.(=) p.(=) Unknown - likely benign g.34635142G>A g.33262837G>A IFNAR2(NM_001289125.1):c.885G>A (p.P295=) - IFNAR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*157C>A r.(=) p.(=) Unknown - likely benign g.34635178C>A g.33262873C>A IFNAR2(NM_001289125.3):c.921C>A (p.I307=) - IFNAR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*279G>T r.(=) p.(=) Unknown - likely benign g.34635300G>T - IFNAR2(NM_000874.3):c.*279G>T (p.(=)) - IFNAR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*551G>A r.(=) p.(=) Unknown - likely benign g.34635572G>A - IFNAR2(NM_001289125.1):c.1315G>A (p.D439N), IFNAR2(NM_207585.2):c.1315G>A (p.D439N) - IFNAR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*551G>A r.(=) p.(=) Unknown - likely benign g.34635572G>A - IFNAR2(NM_001289125.1):c.1315G>A (p.D439N), IFNAR2(NM_207585.2):c.1315G>A (p.D439N) - IFNAR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*709C>T r.(=) p.(=) Unknown - likely benign g.34635730C>T - IFNAR2(NM_001289125.1):c.1473C>T (p.S491=) - IFNAR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5701G>A r.(=) p.(=) Unknown - likely benign g.34640722G>A g.33268417G>A IL10RB(NM_000628.3):c.73G>A (p.E25K) - IFNAR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5758G>A r.(=) p.(=) Unknown - likely benign g.34640779G>A g.33268474G>A IL10RB(NM_000628.3):c.130G>A (p.A44T) - IFNAR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5758G>A r.(=) p.(=) Unknown - VUS g.34640779G>A - IL10RB(NM_000628.3):c.130G>A (p.A44T) - IFNAR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5767A>G r.(=) p.(=) Unknown - benign g.34640788A>G g.33268483A>G IL10RB(NM_000628.3):c.139A>G (p.K47E) - IL10RB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*5767A>G r.(=) p.(=) Unknown - benign g.34640788A>G g.33268483A>G IL10RB(NM_000628.3):c.139A>G (p.K47E) - IL10RB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*5820T>C r.(=) p.(=) Unknown - likely benign g.34640841T>C g.33268536T>C IL10RB(NM_000628.3):c.173+19T>C - IFNAR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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