Unique variants in the IL2RA gene

Information The variants shown are described using the NM_000417.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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     
./. 2 - c.64+5006A>G r.(=) p.(=) - VUS g.6099045T>C g.6057082T>C - - IL2RA_000010 for details see the Uveogene database, for details see the Uveogene database PubMed: El-Shabrawi 2011 - rs2104286 Germline - 26/168 cases, 82/290 cases - - - Peizeng Yang
?/. 1 - c.65-12760T>C r.(=) p.(=) - VUS g.6080748A>G g.6038785A>G - - IL2RA_000001 - - - - Germline - - - - - Yu Sun
-?/. 2 - c.76G>C r.(?) p.(Asp26His) - likely benign g.6067977C>G g.6026014C>G IL2RA(NM_000417.2):c.76G>C (p.D26H) - IL2RA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.180C>T r.(?) p.(Ser60=) - VUS g.6067873G>A - IL2RA(NM_000417.2):c.180C>T (p.S60=) - IL2RA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.257-144G>A r.(=) p.(=) - benign g.6066461C>T g.6024498C>T IL2RA(NM_000417.2):c.257-144G>A - IL2RA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.272C>T r.(?) p.(Thr91Met) - likely benign g.6066302G>A g.6024339G>A IL2RA(NM_000417.2):c.272C>T (p.T91M) - IL2RA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.359G>C r.(?) p.(Ser120Thr) - likely benign g.6066215C>G g.6024252C>G IL2RA(NM_000417.2):c.359G>C (p.S120T) - IL2RA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.367+12A>T r.(=) p.(=) - benign g.6066195T>A g.6024232T>A IL2RA(NM_000417.2):c.367+12A>T - IL2RA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.368-18A>G r.(=) p.(=) - benign g.6063674T>C g.6021711T>C IL2RA(NM_000417.2):c.368-18A>G - IL2RA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.417T>G r.(?) p.(Ile139Met) - likely benign g.6063607A>C g.6021644A>C IL2RA(NM_000417.2):c.417T>G (p.I139M) - IL2RA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.484G>A r.(?) p.(Gly162Ser) - likely benign g.6063540C>T g.6021577C>T IL2RA(NM_000417.2):c.484G>A (p.G162S) - IL2RA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.693G>A r.(?) p.(Glu231=) - likely benign g.6061425C>T - IL2RA(NM_000417.2):c.693G>A (p.E231=) - IL2RA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.711A>G r.(?) p.(Thr237=) - likely benign g.6061407T>C g.6019444T>C IL2RA(NM_000417.2):c.711A>G (p.T237=) - IL2RA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.757G>A r.(?) p.(Val253Ile) - likely benign g.6060053C>T g.6018090C>T IL2RA(NM_000417.2):c.757G>A (p.V253I) - IL2RA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.787C>T r.(?) p.(Arg263Trp) - VUS g.6060023G>A - IL2RA(NM_000417.2):c.787C>T (p.R263W) - IL2RA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.815T>C r.(?) p.(Ile272Thr) - likely benign g.6054839A>G g.6012876A>G IL2RA(NM_000417.2):c.815T>C (p.I272T) - IL2RA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.*1994G>T r.(=) p.(=) - likely benign g.6052841C>A g.6010878C>A - - IL2RA_000014 2 homozygous; Clinindb (India), 97 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12722608 Germline - 2/2795 individuals, 97/2795 individuals - - - Mohammed Faruq
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