Unique variants in the IL13RA1 gene

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.28C>T r.(?) p.(Leu10=) - likely benign g.117861629C>T - IL13RA1(NM_001560.2):c.28C>T (p.L10=) - IL13RA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.89-82T>C r.(=) p.(=) - VUS g.117874898T>C g.118740935T>C - - IL13RA1_000002 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.543A>G r.(?) p.(Gln181=) - 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 - - - - - VKGL-NL_Rotterdam
-/., ?/. 2 - c.1018C>T r.(?) p.(Arg340Cys) - benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1050C>T r.(=) p.(=) - likely benign g.117907882C>T g.118773919C>T L350L - IL13RA1_000009 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - - - Lucy Raymond
?/. 1 - c.1106+193dup r.(=) p.(=) - VUS g.117908131dup g.118774168dup - - IL13RA1_000001 - - - - Germline - - - - - Yu Sun
?/. 2 - c.1192-141del r.(=) p.(=) - VUS g.117925584del g.118791621del - - IL13RA1_000005 - - - - Germline - - - - - Yu Sun
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