Full data view for gene FBP1

Information The variants shown are described using the NM_000507.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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     
+/. - c.114_119dup r.(?) p.(Cys39_Thr40dup) Both (homozygous) ACMG pathogenic g.97401474_97401479dup g.94639192_94639197dup - - FBP1_000001 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - FBP1D - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - 0 - - 1 Daniel Trujillano
-/. - c.426+7C>T r.(=) p.(=) Unknown - benign g.97380043G>A g.94617761G>A FBP1(NM_000507.4):c.426+7C>T - FBP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.426+7C>T r.(=) p.(=) Unknown - benign g.97380043G>A g.94617761G>A FBP1(NM_000507.4):c.426+7C>T - FBP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.567+2T>C r.spl? p.? Unknown - pathogenic g.97372201A>G g.94609919A>G FBP1(NM_000507.4):c.567+2T>C - FBP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.651C>T r.(?) p.(Ala217=) Unknown - benign g.97369151G>A g.94606869G>A FBP1(NM_000507.4):c.651C>T (p.A217=) - FBP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.651C>T r.(?) p.(Ala217=) Unknown - benign g.97369151G>A g.94606869G>A FBP1(NM_000507.4):c.651C>T (p.A217=) - FBP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.653G>A r.(?) p.(Arg218Lys) Unknown - benign g.97369149C>T g.94606867C>T FBP1(NM_000507.4):c.653G>A (p.R218K) - FBP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.653G>A r.(?) p.(Arg218Lys) Unknown - benign g.97369149C>T g.94606867C>T FBP1(NM_000507.4):c.653G>A (p.R218K) - FBP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.670G>A r.(?) p.(Val224Ile) Unknown - likely benign g.97369132C>T - FBP1(NM_000507.3):c.670G>A (p.V224I) - FBP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705+14C>T r.(=) p.(=) Unknown - benign g.97369083G>A g.94606801G>A - - FBP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.960A>G r.(?) p.(Gly320=) Unknown - benign g.97365720T>C g.94603438T>C FBP1(NM_000507.4):c.960A>G (p.G320=) - FBP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.960A>G r.(?) p.(Gly320=) Unknown - benign g.97365720T>C g.94603438T>C FBP1(NM_000507.4):c.960A>G (p.G320=) - FBP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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