All variants in the BAX gene

Information The variants shown are described using the NM_138763.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.86+248A>G r.(=) p.(=) - benign g.49459104A>G g.48955847A>G - - BAX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*3704G>A r.(=) p.(=) - pathogenic g.49468597G>A g.48965340G>A FTL(NM_000146.3):c.-168G>A - FTL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.*3704G>A r.(=) p.(=) - pathogenic g.49468597G>A g.48965340G>A FTL(NM_000146.3):c.-168G>A - FTL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.*3704G>C r.(=) p.(=) - pathogenic g.49468597G>C g.48965340G>C - - BAX_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*3705C>T r.(=) p.(=) - pathogenic g.49468598C>T g.48965341C>T FTL(NM_000146.3):c.-167C>T - FTL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.*3711C>T r.(=) p.(=) - pathogenic g.49468604C>T g.48965347C>T - - BAX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*3711_*3712del r.(=) p.(=) - pathogenic g.49468604_49468605del g.48965347_48965348del FTL(NM_000146.3):c.-161_-160delCA - FTL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*3759G>A r.(=) p.(=) - likely benign g.49468652G>A g.48965395G>A - - BAX_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*3872A>G r.(=) p.(=) - pathogenic g.49468765A>G g.48965508A>G FTL(NM_000146.3):c.1A>G (p.M1?) - BAX_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*3944C>T r.(=) p.(=) - likely benign g.49468837C>T g.48965580C>T FTL(NM_000146.3):c.73C>T (p.L25=) - BAX_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3954C>G r.(=) p.(=) - VUS g.49468847C>G g.48965590C>G - - BAX_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*4120A>G r.(=) p.(=) - likely benign g.49469013A>G g.48965756A>G FTL(NM_000146.3):c.103-14A>G - FTL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*4194T>C r.(=) p.(=) - benign g.49469087T>C g.48965830T>C FTL(NM_000146.3):c.163T>C (p.L55=) - FTL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*4194T>C r.(=) p.(=) - benign g.49469087T>C g.48965830T>C FTL(NM_000146.3):c.163T>C (p.L55=) - FTL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.*4194T>C r.(=) p.(=) - benign g.49469087T>C g.48965830T>C FTL(NM_000146.3):c.163T>C (p.L55=) - FTL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*4194T>C r.(=) p.(=) - benign g.49469087T>C g.48965830T>C FTL(NM_000146.3):c.163T>C (p.L55=) - FTL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.*4221G>A r.(=) p.(=) - likely benign g.49469114G>A g.48965857G>A FTL(NM_000146.3):c.190G>A (p.E64K) - FTL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*4265C>T r.(=) p.(=) - likely benign g.49469158C>T g.48965901C>T FTL(NM_000146.3):c.234C>T (p.L78=) - BAX_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*4279A>G r.(=) p.(=) - likely benign g.49469172A>G g.48965915A>G FTL(NM_000146.3):c.248A>G (p.K83R) - FTL_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*4764C>T r.(=) p.(=) - likely benign g.49469657C>T - FTL(NM_000146.3):c.369C>T (p.D123=) - BAX_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*5007G>A r.(=) p.(=) - VUS g.49469900G>A g.48966643G>A FTL(NM_000146.3):c.436G>A (p.G146S) - BAX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*5034C>T r.(=) p.(=) - VUS g.49469927C>T g.48966670C>T FTL(NM_000146.3):c.463C>T (p.L155=) - BAX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*5060C>T r.(=) p.(=) - VUS g.49469953C>T g.48966696C>T FTL(NM_000146.3):c.489C>T (p.G163=) - BAX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*5093C>T r.(=) p.(=) - benign g.49469986C>T g.48966729C>T FTL(NM_000146.3):c.522C>T (p.H174=) - FTL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.*5093C>T r.(=) p.(=) - benign g.49469986C>T g.48966729C>T FTL(NM_000146.3):c.522C>T (p.H174=) - FTL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*5093C>T r.(=) p.(=) - likely benign g.49469986C>T g.48966729C>T FTL(NM_000146.3):c.522C>T (p.H174=) - FTL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*5093C>T r.(=) p.(=) - likely benign g.49469986C>T g.48966729C>T FTL(NM_000146.3):c.522C>T (p.H174=) - FTL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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