Unique variants in the ALOX12B gene

Information The variants shown are described using the NM_001139.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.71T>C r.(?) p.(Leu24Pro) - pathogenic g.7990690A>G g.8087372A>G - - ALOX12B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.163_173del r.(?) p.(Val55Serfs*5) - likely pathogenic g.7989513_7989523del - 163_173delGGGCACTGCAC - ALOX12B_000016 - - - - Germline - - - - - Sha Hong
-/., -?/. 3 - c.379C>T r.(?) p.(Pro127Ser) - benign, likely benign g.7984479G>A g.8081161G>A - - ALOX12B_000005 1 homozygous; Clinindb (India), 84 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs72842957 CLASSIFICATION record, Germline - 1/2793 individuals, 84/2793 individuals - - - VKGL-NL_Nijmegen, Mohammed Faruq
+/. 1 - c.467_470dup r.(?) p.(His158CysfsTer20) - pathogenic g.7984260_7984263dup g.8080942_8080945dup ALOX12B(NM_001139.2):c.467_470dupATGT (p.H158Cfs*20) - ALOX12B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.631_633del r.(?) p.(Phe211del) - likely pathogenic g.7983997_7983999del g.8080679_8080681del - - ALOX12B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.650+7C>G r.(=) p.(=) - benign g.7983969G>C g.8080651G>C - - ALOX12B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 - c.769C>G r.(?) p.(His257Asp) - likely pathogenic g.7983245G>C g.8079927G>C ALOX12B(NM_001139.3):c.769C>G (p.H257D) - ALOX12B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.1149G>C r.(?) p.(Thr383=) - likely benign g.7980434C>G g.8077116C>G ALOX12B(NM_001139.3):c.1149G>C (p.T383=) - ALOX12B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1156C>T r.(?) p.(Arg386Cys) - pathogenic g.7980427G>A g.8077109G>A - - ALOX12B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1229G>T r.(?) p.(Cys410Phe) - likely benign g.7980354C>A - ALOX12B(NM_001139.3):c.1229G>T (p.C410F) - ALOX12B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1324C>T r.(?) p.(Arg442Trp) - likely pathogenic g.7980013G>A - - - ALOX12B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1405C>T r.(?) p.(Arg469Trp) - VUS g.7979620G>A - - - ALOX12B_000015 - - - - Germline - - - - - Sha Hong
+/. 2 - c.1562A>G r.(?) p.(Tyr521Cys) - pathogenic g.7979005T>C g.8075687T>C ALOX12B(NM_001139.2):c.1562A>G (p.Y521C) - ALOX12B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.1699G>A r.(?) p.(Val567Ile) - likely benign g.7977031C>T g.8073713C>T ALOX12B(NM_001139.2):c.1699G>A (p.(Val567Ile)) - ALOX12B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1709T>C r.(?) p.(Val570Ala) - VUS g.7977021A>G g.8073703A>G ALOX12B(NM_001139.3):c.1709T>C (p.V570A) - ALOX12B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1745_1749del r.(?) p.(Asn582ArgfsTer24) - pathogenic g.7976983_7976987del g.8073665_8073669del - - ALOX12B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1756-2A>G r.spl? p.? - pathogenic g.7976638T>C g.8073320T>C ALOX12B(NM_001139.3):c.1756-2A>G - ALOX12B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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