Unique variants in gene FGG

Information The variants shown are described using the NM_021870.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

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     
+?/., ?/. 3 - c.323C>G likely pathogenic r.(?) p.(Ala108Gly) - g.155533035G>C g.154611883G>C - - FGG_000000 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Gerard C.P. Schaafsma
+?/. 2 6 c.554del - r.(?) p.(Lys185Argfs*14) - g.155530894del g.154609742del - - FGG_000002 - - - - Germline - - - - - Joshi Stephen
?/. 1 - c.571G>A VUS r.(?) p.(Gly191Arg) - g.155530877C>T - - - FGG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.702G>A pathogenic r.(?) p.(Trp234*) - g.155529767C>T - - - FGG_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 3 8 c.901C>T - r.(?) p.Arg301Cys Tochigi, Osaka II, Baltimore IV g.155528085G>A g.154606933G>A Arg275Cys - FGG_000001 detected using protein sequencing PubMed: Yoshida 1988, OMIM:var0001, PubMed: Terukina 1988, OMIM:var0001, 1 more item - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.1036G>C likely pathogenic r.(?) p.(Asp346His) - g.155527950C>G - - - FGG_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1087A>G likely pathogenic r.(?) p.(Asn363Asp) - g.155527899T>C - FGG(NM_021870.2):c.1087A>G (p.N363D) - FGG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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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.