Unique variants in gene BAX

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

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.86+248A>G benign r.(=) p.(=) g.49459104A>G - - - BAX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.*3704G>A pathogenic r.(=) p.(=) g.49468597G>A - FTL(NM_000146.3):c.-168G>A - FTL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
+/. 1 - c.*3704G>C pathogenic r.(=) p.(=) g.49468597G>C - - - BAX_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.*3705C>T pathogenic r.(=) p.(=) g.49468598C>T - FTL(NM_000146.3):c.-167C>T - FTL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.*3711C>T pathogenic r.(=) p.(=) g.49468604C>T - - - BAX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.*3711_*3712del pathogenic r.(=) p.(=) g.49468604_49468605del - FTL(NM_000146.3):c.-161_-160delCA - FTL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*3759G>A likely benign r.(=) p.(=) g.49468652G>A - - - BAX_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.*3872A>G pathogenic r.(=) p.(=) g.49468765A>G - FTL(NM_000146.3):c.1A>G (p.M1?) - BAX_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*3954C>G VUS r.(=) p.(=) g.49468847C>G - - - BAX_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4120A>G likely benign r.(=) p.(=) g.49469013A>G - FTL(NM_000146.3):c.103-14A>G - FTL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 4 - c.*4194T>C benign r.(=) p.(=) g.49469087T>C - FTL(NM_000146.3):c.163T>C (p.L55=) - FTL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.*4221G>A likely benign r.(=) p.(=) g.49469114G>A - FTL(NM_000146.3):c.190G>A (p.E64K) - FTL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4265C>T likely benign r.(=) p.(=) g.49469158C>T - FTL(NM_000146.3):c.234C>T (p.L78=) - BAX_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4279A>G likely benign r.(=) p.(=) g.49469172A>G - FTL(NM_000146.3):c.248A>G (p.K83R) - FTL_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*5007G>A VUS r.(=) p.(=) g.49469900G>A - FTL(NM_000146.3):c.436G>A (p.G146S) - BAX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*5034C>T VUS r.(=) p.(=) g.49469927C>T - FTL(NM_000146.3):c.463C>T (p.L155=) - BAX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*5060C>T VUS r.(=) p.(=) g.49469953C>T - FTL(NM_000146.3):c.489C>T (p.G163=) - BAX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 4 - c.*5093C>T benign, likely benign r.(=) p.(=) g.49469986C>T - FTL(NM_000146.3):c.522C>T (p.H174=) - FTL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen
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