Full data view for gene SBF2-AS1

Information The variants shown are described using the NR_036485.1 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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     
-/. - n.211+21875T>G r.(?) - Unknown - benign g.9801925T>G g.9780378T>G SBF2(NM_030962.4):c.*40A>C, SBF2-AS1(NR_036485.1):n.211+21875T>G - SBF2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.211+21981G>A r.(?) - Unknown - likely benign g.9802031G>A - SBF2(NM_030962.4):c.5484C>T (p.C1828=) - SBF2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.212-22650A>G r.(?) - Unknown - VUS g.9806745A>G - SBF2(NM_030962.4):c.5158T>C (p.S1720P) - SBF2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.212-20214G>A r.(?) - Unknown - likely benign g.9809181G>A g.9787634G>A SBF2(NM_030962.3):c.5037C>T (p.(=)), SBF2(NM_030962.4):c.5037C>T (p.R1679=) - SBF2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.212-20214G>A r.(?) - Unknown - VUS g.9809181G>A g.9787634G>A SBF2(NM_030962.3):c.5037C>T (p.(=)), SBF2(NM_030962.4):c.5037C>T (p.R1679=) - SBF2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.212-20194_212-20192del r.(?) - Unknown - VUS g.9809201_9809203del g.9787654_9787656del SBF2(NM_030962.3):c.5020_5022del (p.(Glu1674del)), SBF2(NM_030962.4):c.5020_5022delGAA (p.E1674del) - SBF2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.212-20194_212-20192del r.(?) - Unknown - likely benign g.9809201_9809203del g.9787654_9787656del SBF2(NM_030962.3):c.5020_5022del (p.(Glu1674del)), SBF2(NM_030962.4):c.5020_5022delGAA (p.E1674del) - SBF2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.212-20095A>G r.(?) - Unknown - benign g.9809300A>G g.9787753A>G SBF2(NM_030962.4):c.4933-15T>C - SBF2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.212-18681C>T r.(?) - Unknown - pathogenic g.9810714C>T g.9789167C>T SBF2(NM_030962.4):c.4874G>A (p.W1625*) - SBF2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.212-18616G>A r.(?) - Unknown - likely benign g.9810779G>A - SBF2(NM_030962.3):c.4809C>T (p.H1603=) - SBF2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.212-17159G>A r.(?) - Unknown - benign g.9812236G>A g.9790689G>A SBF2(NM_030962.4):c.4571-6C>T, SBF2-AS1(NR_036485.1):n.212-17159G>A - SBF2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.212-17159G>A r.(?) - Unknown - benign g.9812236G>A g.9790689G>A SBF2(NM_030962.4):c.4571-6C>T, SBF2-AS1(NR_036485.1):n.212-17159G>A - SBF2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.212-11980T>C r.(?) - Unknown - benign g.9817415T>C g.9795868T>C SBF2(NM_030962.3):c.4533A>G (p.T1511=), SBF2(NM_030962.4):c.4533A>G (p.T1511=) - SBF2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.212-11980T>C r.(?) - Unknown - benign g.9817415T>C - SBF2(NM_030962.3):c.4533A>G (p.T1511=), SBF2(NM_030962.4):c.4533A>G (p.T1511=) - SBF2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.212-11969G>A r.(?) - Unknown - VUS g.9817426G>A - SBF2(NM_030962.4):c.4522C>T (p.R1508C) - SBF2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.363C>G r.(?) - Unknown - pathogenic g.9829546C>G g.9807999C>G SBF2-AS1(NR_036485.1):n.363C>G - SBF2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.1313A>G r.(?) - Unknown - likely benign g.9830496A>G - SBF2(NM_030962.3):c.4209T>C (p.G1403=) - SBF2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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