Full data view for gene ALOXE3

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-4311G>A r.(?) p.(=) Unknown - VUS g.8026407C>T - - - ALOXE3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4268G>A r.(?) p.(=) Unknown - benign g.8026364C>T g.8123046C>T - - HES7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3548G>A r.(?) p.(=) Unknown - VUS g.8025644C>T - - - ALOXE3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.32C>T r.(?) p.(Pro11Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.93G>T r.(?) p.(Gln31His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97C>G r.(?) p.(Pro33Ala) Unknown - benign g.8021608G>C g.8118290G>C - - ALOXE3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.232C>G r.(?) p.(Gln78Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.298C>G r.(?) p.(Arg100Gly) Unknown - benign g.8021407G>C g.8118089G>C - - ALOXE3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1096C>T r.(?) p.(Arg366Ter) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1096C>T r.(?) p.(Arg366Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1096C>T r.(?) p.(Arg366Ter) Unknown - pathogenic g.8015495G>A - ALOXE3(NM_001165960.1):c.1096C>T (p.R366*) - ALOXE3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1181-14C>T r.(=) p.(=) Unknown - benign g.8014863G>A g.8111545G>A ALOXE3(NM_001165960.1):c.1181-14C>T - ALOXE3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1181-14C>T r.(=) p.(=) Parent #1 - VUS g.8014863G>A g.8111545G>A - - ALOXE3_000003 conflicting interpretations of pathogenicity; 63 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113539426 Germline - 63/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 63 Mohammed Faruq
+/. - c.1813del r.(?) p.(Leu605Serfs*5) Unknown - pathogenic g.8012638del - ALOXE3(NM_001165960.1):c.1813delC (p.L605Sfs*5) - ALOXE3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2053C>T r.(?) p.(Gln685*) Unknown - pathogenic g.8011813G>A - ALOXE3(NM_001165960.1):c.2053C>T (p.Q685*) - ALOXE3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2285C>T r.(?) p.(Pro762Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2285C>T r.(?) p.(Pro762Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2285C>T r.(?) p.(Pro762Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2520C>T r.(?) p.(Ser840=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2520C>T r.(?) p.(Ser840=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
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