Unique variants in the BAZ1B gene

Information The variants shown are described using the NM_032408.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.908C>T r.(?) p.(Pro303Leu) - VUS g.72892883G>A - BAZ1B(NM_032408.4):c.908C>T (p.(Pro303Leu)) - BAZ1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1992A>G r.(?) p.(Gln664=) - likely benign g.72891799T>C g.73477469T>C BAZ1B(NM_032408.3):c.1992A>G (p.Q664=) - BAZ1B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2798T>C r.(?) p.(Ile933Thr) - VUS g.72883915A>G - BAZ1B(NM_032408.4):c.2798T>C (p.(Ile933Thr)) - BAZ1B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3544G>A r.(?) p.(Ala1182Thr) - VUS g.72865213C>T - BAZ1B(NM_032408.4):c.3544G>A (p.A1182T) - BAZ1B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3581-2A>C r.spl? p.? - VUS g.72864021T>G - BAZ1B(NM_032408.4):c.3581-2A>C - BAZ1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3804_3821del r.(?) p.(Glu1268_Glu1273del) - likely benign g.72861640_72861657del - BAZ1B(NM_032408.4):c.3804_3821delGGAGGAGGAGGAAGAAGA (p.E1268_E1273del) - BAZ1B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.4010G>A r.(?) p.(Ser1337Asn) - likely benign g.72857139C>T g.73442809C>T BAZ1B(NM_032408.3):c.4010G>A (p.S1337N) - BAZ1B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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