All variants in the FGB gene

Information The variants shown are described using the NM_005141.4 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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.31A>G r.(?) p.(Lys11Glu) - - likely benign g.155484201A>G - FGB(NM_005141.4):c.31A>G (p.K11E) - FGB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.139C>T r.(?) p.(Arg47Ter) - - pathogenic g.155486984C>T g.154565832C>T FGB(NM_005141.4):c.139C>T (p.R47*) - FGB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.139C>T r.(?) p.(Arg47Ter) - - pathogenic g.155486984C>T - FGB(NM_005141.4):c.139C>T (p.R47*) - FGB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.284G>C r.(?) p.(Cys95Ser) - - pathogenic g.155487129G>C g.154565977G>C - - FGB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.291C>T r.(?) p.(His97=) - - likely benign g.155487136C>T - FGB(NM_005141.4):c.291C>T (p.H97=) - FGB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.291C>T r.(?) p.(His97=) - - benign g.155487136C>T - FGB(NM_005141.4):c.291C>T (p.H97=) - FGB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.318T>C r.(?) p.(Cys106=) - - likely benign g.155487652T>C - FGB(NM_005141.4):c.318T>C (p.C106=) - FGB_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.318T>C r.(?) p.(Cys106=) - - benign g.155487652T>C - FGB(NM_005141.4):c.318T>C (p.C106=) - FGB_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.490G>A r.(?) p.(Asp164Asn) - - likely pathogenic g.155487824G>A g.154566672G>A - - FGB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.564T>C r.(?) p.(Asn188=) - - likely benign g.155488818T>C g.154567666T>C - - FGB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.567C>T r.(?) p.(Ser189=) - - benign g.155488821C>T g.154567669C>T - - FGB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.794C>T r.(?) p.(Pro265Leu) - - VUS g.155489608C>T g.154568456C>T - - FGB_000010 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6054 Germline - 5/2795 individuals - - - Mohammed Faruq
?/. - c.794C>T r.(?) p.(Pro265Leu) - - VUS g.155489608C>T - FGB(NM_005141.4):c.794C>T (p.P265L) - FGB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.794C>T r.(?) p.(Pro265Leu) - - VUS g.155489608C>T - FGB(NM_005141.4):c.794C>T (p.P265L) - FGB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.959-13_959-10del r.(=) p.(=) - - benign g.155490653_155490656del g.154569501_154569504del FGB(NM_005141.4):c.959-13_959-10delGTTT - FGB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1113A>G r.(?) p.(Ser371=) - - benign g.155490820A>G g.154569668A>G - - FGB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1125C>T r.(?) p.(Tyr375=) - - benign g.155490832C>T g.154569680C>T - - FGB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1329C>T r.(?) p.(Asn443=) - - likely benign g.155491655C>T - FGB(NM_005141.4):c.1329C>T (p.N443=) - FGB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1433G>A r.(?) p.(Arg478Lys) - - likely benign g.155491759G>A g.154570607G>A - - FGB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.