Full data view for gene IL1RN

Information The variants shown are described using the NM_173841.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-83G>A r.(?) p.(=) Unknown - likely benign g.113875513G>A g.113117936G>A IL1RN(NM_173843.3):c.-302G>A - IL1RN_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-12G>C r.(?) p.(=) Unknown - benign g.113875584G>C g.113118007G>C IL1RN(NM_173843.3):c.-231G>C - IL1RN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-12G>C r.(?) p.(=) Unknown - benign g.113875584G>C g.113118007G>C IL1RN(NM_173843.3):c.-231G>C - IL1RN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.17T>A r.(?) p.(Leu6*) Unknown - VUS g.113877649T>A - IL1RN(NM_173841.3):c.17T>A (p.L6*) - IL1RN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.73+8A>C r.(=) p.(=) Unknown - benign g.113877713A>C g.113120136A>C IL1RN(NM_173843.3):c.-209-1312A>C - IL1RN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.73+8A>C r.(=) p.(=) Unknown - benign g.113877713A>C g.113120136A>C IL1RN(NM_173843.3):c.-209-1312A>C - IL1RN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.74-26T>A r.(=) p.(=) Unknown - likely benign g.113885240T>A g.113127663T>A IL1RN(NM_173842.2):c.39T>A (p.T13=) - IL1RN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78G>A r.(?) p.(Thr26=) Unknown - likely benign g.113885270G>A g.113127693G>A IL1RN(NM_173841.2):c.78G>A (p.T26=) - IL1RN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.85C>T r.(?) p.(Arg29Ter) Unknown - pathogenic g.113885277C>T - - - IL1RN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.125+5G>A r.spl? p.? Unknown - benign g.113885322G>A g.113127745G>A IL1RN(NM_173843.3):c.14+5G>A - IL1RN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126-18A>C r.(=) p.(=) Unknown - likely benign g.113887135A>C g.113129558A>C IL1RN(NM_173843.3):c.15-18A>C - IL1RN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126-9C>T r.(=) p.(=) Unknown - likely benign g.113887144C>T - IL1RN(NM_173841.2):c.126-9C>T, IL1RN(NM_173842.3):c.117-9C>T - IL1RN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126-9C>T r.(=) p.(=) Unknown - likely benign g.113887144C>T - IL1RN(NM_173841.2):c.126-9C>T, IL1RN(NM_173842.3):c.117-9C>T - IL1RN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.180T>C r.(?) p.(Ala60=) Unknown - benign g.113887207T>C g.113129630T>C IL1RN(NM_173843.3):c.69T>C (p.A23=) - IL1RN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228G>A r.(?) p.(Val76=) Unknown - likely benign g.113888635G>A g.113131058G>A IL1RN(NM_001318914.1):c.117G>A (p.V39=) - IL1RN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235A>G r.(?) p.(Ile79Val) Unknown - likely benign g.113888642A>G g.113131065A>G IL1RN(NM_001318914.1):c.124A>G (p.I42V) - IL1RN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.238G>T r.(?) p.(Glu80Ter) Unknown - pathogenic g.113888645G>T g.113131068G>T IL1RN(NM_001318914.1):c.127G>T (p.E43*), IL1RN(NM_001318914.2):c.127G>T (p.E43*), IL1RN(NM_173843.3):c.127G>T (p.E43*) - IL1RN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.238G>T r.(?) p.(Glu80Ter) Unknown - pathogenic g.113888645G>T - IL1RN(NM_001318914.1):c.127G>T (p.E43*), IL1RN(NM_001318914.2):c.127G>T (p.E43*), IL1RN(NM_173843.3):c.127G>T (p.E43*) - IL1RN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.238G>T r.(?) p.(Glu80Ter) Unknown - pathogenic g.113888645G>T - IL1RN(NM_001318914.1):c.127G>T (p.E43*), IL1RN(NM_001318914.2):c.127G>T (p.E43*), IL1RN(NM_173843.3):c.127G>T (p.E43*) - IL1RN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246T>C r.(?) p.(His82=) Unknown - likely benign g.113888653T>C - IL1RN(NM_001318914.1):c.135T>C (p.H45=) - IL1RN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281G>C r.(?) p.(Cys94Ser) Unknown - VUS g.113888688G>C g.113131111G>C IL1RN(NM_173843.3):c.170G>C (p.C57S) - IL1RN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281G>T r.(?) p.(Cys94Phe) Unknown - VUS g.113888688G>T g.113131111G>T IL1RN(NM_173843.3):c.170G>T (p.C57F) - IL1RN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281G>T r.(?) p.(Cys94Phe) Unknown - VUS g.113888688G>T - IL1RN(NM_173843.3):c.170G>T (p.C57F) - IL1RN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.317T>C r.(?) p.(Leu106Pro) Unknown - VUS g.113888724T>C g.113131147T>C IL1RN(NM_173843.3):c.206T>C (p.L69P) - IL1RN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.379G>A r.(?) p.(Ala127Thr) Unknown - likely benign g.113890284G>A g.113132707G>A IL1RN(NM_173843.3):c.268G>A (p.A90T) - IL1RN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.399T>C r.(?) p.(Ser133=) Unknown - benign g.113890304T>C - IL1RN(NM_173843.3):c.288T>C (p.S96=) - IL1RN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.538G>A r.(?) p.(Glu180Lys) Unknown - likely benign g.113890443G>A g.113132866G>A IL1RN(NM_001318914.1):c.427G>A (p.E143K), IL1RN(NM_001318914.2):c.427G>A (p.E143K), IL1RN(NM_173842.2):c.529G>A (p.(Glu177Lys)) - IL1RN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.538G>A r.(?) p.(Glu180Lys) Unknown - likely benign g.113890443G>A g.113132866G>A IL1RN(NM_001318914.1):c.427G>A (p.E143K), IL1RN(NM_001318914.2):c.427G>A (p.E143K), IL1RN(NM_173842.2):c.529G>A (p.(Glu177Lys)) - IL1RN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.538G>A r.(?) p.(Glu180Lys) Unknown - likely benign g.113890443G>A - IL1RN(NM_001318914.1):c.427G>A (p.E143K), IL1RN(NM_001318914.2):c.427G>A (p.E143K), IL1RN(NM_173842.2):c.529G>A (p.(Glu177Lys)) - IL1RN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*162C>T r.(=) p.(=) Parent #1 - likely benign g.113890610C>T g.113133033C>T - - IL1RN_000018 125 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4252041 Germline - 125/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 125 Mohammed Faruq
-?/. - c.*162C>T r.(=) p.(=) Both (homozygous) - likely benign g.113890610C>T g.113133033C>T - - IL1RN_000018 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4252041 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
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