All variants in the ENO3 gene

Information The variants shown are described using the NM_001193503.1 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

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     
-?/. - c.-5234G>A r.(?) p.(=) - likely benign g.4849246G>A - PFN1(NM_005022.3):c.372C>T (p.I124=) - ENO3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-5213T>A r.(?) p.(=) - VUS g.4849267T>A g.4945972T>A PFN1(NM_005022.3):c.351A>T (p.E117D) - PFN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-5212T>C r.(?) p.(=) - VUS g.4849268T>C g.4945973T>C PFN1(NM_005022.3):c.350A>G (p.E117G) - PFN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-5196G>A r.(?) p.(=) - benign g.4849284G>A g.4945989G>A PFN1(NM_005022.3):c.334C>T (p.L112=), PFN1(NM_005022.4):c.334C>T (p.L112=) - PFN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-5196G>A r.(?) p.(=) - benign g.4849284G>A g.4945989G>A PFN1(NM_005022.3):c.334C>T (p.L112=), PFN1(NM_005022.4):c.334C>T (p.L112=) - PFN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-5196G>A r.(?) p.(=) - likely benign g.4849284G>A g.4945989G>A PFN1(NM_005022.3):c.334C>T (p.L112=), PFN1(NM_005022.4):c.334C>T (p.L112=) - PFN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.181+184A>C r.(=) p.(=) - likely benign g.4856369A>C - ENO3(NM_001976.4):c.205A>C (p.I69L) - ENO3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.181+191A>G r.(=) p.(=) - benign g.4856376A>G g.4953081A>G ENO3(NM_001976.5):c.212A>G (p.N71S) - ENO3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.181+205G>C r.(=) p.(=) - benign g.4856390G>C g.4953095G>C ENO3(NM_001976.4):c.226G>C (p.A76P) - ENO3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.181+205G>C r.(=) p.(=) - likely benign g.4856390G>C g.4953095G>C - - ENO3_000004 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143945974 Germline - 13/2793 individuals - - - Mohammed Faruq
-/. - c.181+395T>C r.(=) p.(=) - benign g.4856580T>C g.4953285T>C ENO3(NM_001976.5):c.254T>C (p.V85A) - ENO3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.283G>A r.(?) p.(Ala95Thr) - VUS g.4857108G>A - ENO3(NM_053013.4):c.412G>A (p.A138T) - ENO3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.338G>A r.(?) p.(Gly113Asp) - likely pathogenic g.4858392G>A g.4955097G>A ENO3(NM_001976.4):c.467G>A (p.G156D) - ENO3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.338G>A r.(?) p.(Gly113Asp) - pathogenic g.4858392G>A g.4955097G>A - - ENO3_000005 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918403 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. - c.338G>A r.(?) p.(Gly113Asp) - VUS g.4858392G>A - ENO3(NM_001976.4):c.467G>A (p.G156D) - ENO3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.375C>G r.(?) p.(Phe125Leu) - VUS g.4858429C>G - - - ENO3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.425G>T r.(?) p.(Gly142Val) - VUS g.4858479G>T g.4955184G>T - - ENO3_000007 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200324278 Germline - 1/2794 individuals - - - Mohammed Faruq
-?/. - c.865G>A r.(?) p.(Val289Ile) - likely benign g.4859365G>A g.4956070G>A ENO3(NM_001193503.1):c.865G>A (p.(Val289Ile)) - ENO3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.992G>A r.(?) p.(Gly331Glu) - VUS g.4859921G>A g.4956626G>A - - ENO3_000008 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918404 Germline - 2/2794 individuals - - - Mohammed Faruq
?/. - c.1079G>A r.(?) p.(Arg360His) - VUS g.4860157G>A g.4956862G>A ENO3(NM_001976.4):c.1208G>A (p.R403H) - ENO3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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