Unique variants in gene NT5E

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

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     
?/. 1 - c.815G>A VUS r.(?) p.(Gly272Glu) g.86195016G>A - NT5E(NM_001204813.1):c.815G>A (p.(Gly272Glu)) - NT5E_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1126A>G benign r.(?) p.(Thr376Ala) g.86199233A>G - NT5E(NM_002526.3):c.1126A>G (p.T376A) - NT5E_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 2 - 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
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