Full data view for gene IL13RA1

Information The variants shown are described using the NM_001560.2 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.28C>T r.(?) p.(Leu10=) Unknown - likely benign g.117861629C>T - IL13RA1(NM_001560.2):c.28C>T (p.L10=) - IL13RA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.89-82T>C r.(=) p.(=) Maternal (inferred) - VUS g.117874898T>C g.118740935T>C - - IL13RA1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.89-82T>C r.(=) p.(=) Maternal (inferred) - VUS g.117874898T>C g.118740935T>C - - IL13RA1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.543A>G r.(?) p.(Gln181=) Unknown - likely benign g.117892072A>G g.118758109A>G IL13RA1(NM_001560.2):c.543A>G (p.Q181=) - IL13RA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1018C>T r.(?) p.(Arg340Cys) Unknown - benign g.117907850C>T g.118773887C>T IL13RA1(NM_001560.2):c.1018C>T (p.R340C, p.(Arg340Cys)) - IL13RA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1018C>T r.(?) p.(Arg340Cys) Unknown - VUS g.117907850C>T g.118773887C>T IL13RA1(NM_001560.2):c.1018C>T (p.R340C, p.(Arg340Cys)) - IL13RA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1050C>T r.(=) p.(=) Parent #1 - likely benign g.117907882C>T g.118773919C>T L350L - IL13RA1_000009 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 6 Lucy Raymond
?/. - c.1106+193dup r.(=) p.(=) Unknown - VUS g.117908131dup g.118774168dup - - IL13RA1_000001 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1192-141del r.(=) p.(=) Unknown - VUS g.117925584del g.118791621del - - IL13RA1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1192-141del r.(=) p.(=) Unknown - VUS g.117925584del g.118791621del - - IL13RA1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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