All transcript variants in gene NT5E

Information The variants shown are described using the NM_001204813.1 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.1126A>G benign r.(?) p.(Thr376Ala) g.86199233A>G - NT5E:c.1126A>G (T376A) - NT5E_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1126A>G benign r.(?) p.(Thr376Ala) g.86199233A>G - NT5E:NM_002526.3:c.1126A>G (Thr376Ala) - NT5E_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1210+12G>C benign r.(=) p.(=) g.86199329G>C - NT5E:c.1210+12G>C - NT5E_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1210+12G>C benign r.(=) p.(=) g.86199329G>C - NT5E:NM_002526.3:c.1210+12G>C - NT5E_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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