Unique variants in the FGA gene

Information The variants shown are described using the NM_000508.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Reported     

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     
-/. 1 - c.-58A>G r.(?) p.(=) - - benign g.155511897T>C g.154590745T>C - - FGA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.95G>A r.(?) p.(Gly32Glu) - - likely pathogenic g.155510674C>T g.154589522C>T - - FGA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.103C>T r.(?) p.(Arg35Cys) - - pathogenic g.155510666G>A - - - FGA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.104G>A r.(?) p.(Arg35His) - - pathogenic g.155510665C>T g.154589513C>T - - FGA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.180+1G>C r.spl? p.? - - pathogenic g.155510588C>G g.154589436C>G - - FGA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.385C>T r.(?) p.(Arg129Ter) - - likely pathogenic g.155508789G>A - FGA(NM_000508.3):c.385C>T (p.R129*) - FGA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.386G>C r.(?) p.(Arg129Pro) - - VUS g.155508788C>G - - - FGA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.510+1G>T r.spl? p.? - - pathogenic g.155508663C>A - - - FGA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.553A>G r.(?) p.(Ser185Gly) - - VUS g.155508028T>C g.154586876T>C - - FGA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.616C>G r.(?) p.(Gln206Glu) - - VUS g.155507965G>C - - - FGA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.780G>A r.(?) p.(Glu260=) - - likely benign g.155507801C>T - FGA(NM_000508.3):c.780G>A (p.E260=) - FGA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.929C>G r.(?) p.(Pro310Arg) - - likely benign g.155507652G>C g.154586500G>C - - FGA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.991A>G r.(?) p.(Thr331Ala) - - benign g.155507590T>C g.154586438T>C FGA(NM_000508.3):c.991A>G (p.T331A) - FGA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 2 - c.1001G>A r.(?) p.(Trp334Ter) - - pathogenic g.155507580C>T g.154586428C>T FGA(NM_000508.3):c.1001G>A (p.W334*) - FGA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.1130G>A r.(?) p.(Ser377Asn) - - likely benign g.155507451C>T - - - FGA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1199C>T r.(?) p.(Ser400Phe) - - likely benign g.155507382G>A g.154586230G>A - - FGA_000018 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.038 - - - Global Variome, with Curator vacancy
+/. 1 - c.1372C>T r.(?) p.(Arg458Cys) - - pathogenic g.155507209G>A g.154586057G>A - - FGA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.1417G>A r.(?) p.(Asp473Asn) - - VUS g.155507164C>T g.154586012C>T FGA(NM_000508.3):c.1417G>A (p.D473N) - FGA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/. 1 - c.1542T>C r.(?) p.(Pro514=) - - benign g.155507039A>G - FGA(NM_000508.3):c.1542T>C (p.P514=) - FGA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1822G>A r.(?) p.(Gly608Arg) - - VUS g.155506759C>T g.154585607C>T FGA(NM_000508.3):c.1822G>A (p.G608R) - FGA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1989C>T r.(?) p.(Cys663=) - - likely benign g.155505888G>A g.154584736G>A FGA(NM_000508.3):c.1989C>T (p.C663=) - FGA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2007_2019del r.(?) p.(Leu669Phefs*2) - - VUS g.155505860_155505872del - - - FGA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.2587del r.(?) p.(Val864*) - - likely pathogenic g.155505293del g.154584141del NM_000508.3:c.2587del; p.V864X - FGA_000023 - PubMed: Nair 2018 - rs773678959 Unknown ? - - - - LOVD
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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.