All transcript variants in gene IL2RG

Information The variants shown are described using the NM_000206.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. - c.49C>A likely benign - - g.70331341G>T - IL2RG:NM_000206.2:c.49C>A - IL2RG_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.78A>T likely benign r.(=) p.(=) g.70331312T>A - IL2RG:c.78A>T (=) - IL2RG_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.115+161_115+162insTTCT - - p.(=) g.70331113_70331114insAGAA g.71111263_71111264insAGAA - - IL2RG_000002 - - - - Germline - - - - - Yu Sun
?/. - c.115+161_115+162insTTCT - - p.(=) g.70331113_70331114insAGAA g.71111263_71111264insAGAA - - IL2RG_000002 - - - - Germline - - - - - Yu Sun
?/. - c.115+174_115+175insTCTT - - p.(=) g.70331100_70331101insAAGA g.71111250_71111251insAAGA - - IL2RG_000004 - - - - Germline - - - - - Yu Sun
?/. - c.115+174_115+175insTCTT - - p.(=) g.70331100_70331101insAAGA g.71111250_71111251insAAGA - - IL2RG_000004 - - - - Germline - - - - - Yu Sun
?/. - c.328G>T VUS r.(?) p.(Glu110*) g.70330480C>A - IL2RG:c.328G>T (E110*) - IL2RG_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.494T>G likely benign - - g.70330106A>C - IL2RG:NM_000206.2:c.494T>G, NM_001025265.2:c.-3700T>G - IL2RG_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.594+211dup - - p.(=) g.70329795dup g.71109945dup - - IL2RG_000001 - - - - Germline - - - - - Yu Sun
?/. - c.657C>A VUS r.(?) p.(Tyr219*) g.70329178G>T - IL2RG:c.657C>A (Y219*) - IL2RG_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.817_818insATCAA pathogenic r.(?) p.(Ile273Asnfs*23) g.70328485_70328486insTTGAT - IL2RG:NM_000206.2:c.817_818insATCAA (Ile273fs) - IL2RG_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 8 c.1105A>G - r.(?) p.(Thr369Ala) g.70327591T>C - T369A - IL2RG_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
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