Unique variants in the ALOXE3 gene

Information The variants shown are described using the NM_001165960.1 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

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     
?/. 1 - c.-4311G>A r.(?) p.(=) - VUS g.8026407C>T - - - ALOXE3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-4268G>A r.(?) p.(=) - benign g.8026364C>T g.8123046C>T - - HES7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-3548G>A r.(?) p.(=) - VUS g.8025644C>T - - - ALOXE3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.32C>T r.(?) p.(Pro11Leu) - benign g.8022065G>A g.8118747G>A ALOXE3(NM_001165960.1):c.32C>T (p.P11L) - ALOXE3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.93G>T r.(?) p.(Gln31His) - likely benign g.8021612C>A g.8118294C>A ALOXE3(NM_001165960.1):c.93G>T (p.(Gln31His)) - ALOXE3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.97C>G r.(?) p.(Pro33Ala) - benign g.8021608G>C g.8118290G>C - - ALOXE3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.232C>G r.(?) p.(Gln78Glu) - likely benign g.8021473G>C g.8118155G>C ALOXE3(NM_001165960.1):c.232C>G (p.(Gln78Glu)) - ALOXE3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.298C>G r.(?) p.(Arg100Gly) - benign g.8021407G>C g.8118089G>C - - ALOXE3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 3 - c.1096C>T r.(?) p.(Arg366Ter) - pathogenic g.8015495G>A g.8112177G>A ALOXE3(NM_001165960.1):c.1096C>T (p.R366*) - ALOXE3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/., ?/. 2 - c.1181-14C>T r.(=) p.(=) - benign, VUS g.8014863G>A g.8111545G>A ALOXE3(NM_001165960.1):c.1181-14C>T - ALOXE3_000003 conflicting interpretations of pathogenicity; 63 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs113539426 CLASSIFICATION record, Germline - 63/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
+/. 1 - c.1813del r.(?) p.(Leu605Serfs*5) - pathogenic g.8012638del - ALOXE3(NM_001165960.1):c.1813delC (p.L605Sfs*5) - ALOXE3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2053C>T r.(?) p.(Gln685*) - pathogenic g.8011813G>A - ALOXE3(NM_001165960.1):c.2053C>T (p.Q685*) - ALOXE3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 - c.2285C>T r.(?) p.(Pro762Leu) - pathogenic g.8006708G>A g.8103390G>A ALOXE3(NM_001165960.1):c.2285C>T (p.P762L) - ALOXE3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/. 2 - c.2520C>T r.(?) p.(Ser840=) - benign g.7999957G>A g.8096639G>A ALOXE3(NM_001165960.1):c.2520C>T (p.S840=) - ALOXE3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
Legend   How to query