Full data view for gene FGG

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.323C>G - r.(?) p.(Ala108Gly) - Unknown g.155533035G>C g.154611883G>C - - FGG_000000 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.323C>G - r.(?) p.(Ala108Gly) - Unknown g.155533035G>C g.154611883G>C - - FGG_000000 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/. - c.323C>G likely pathogenic r.(?) p.(Ala108Gly) - Unknown g.155533035G>C - FGG(NM_000509.5):c.323C>G (p.Ala108Gly) - FGG_000000 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.554del - r.(?) p.(Lys185Argfs*14) - Both (homozygous) g.155530894del g.154609742del - - FGG_000002 - - - - Germline - - - 0 - DNA SEQ-NG - Whole exome sequencing ? - - - M yes (India) Asian - 0 - - 1 -
+?/. 6 c.554del - r.(?) p.(Lys185Argfs*14) - Both (homozygous) g.155530894del g.154609742del - - FGG_000002 - - - - Germline - - - 0 - DNA SEQ-NG - Whole exome sequencing ? - - - M yes (India) Asian - 0 - - 1 Joshi Stephen
?/. - c.571G>A VUS r.(?) p.(Gly191Arg) - Unknown g.155530877C>T - FGG(NM_000509.5):c.571G>A (p.(Gly191Arg)) - FGG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.702G>A pathogenic r.(?) p.(Trp234*) - Unknown g.155529767C>T - FGG(NM_000509.5):c.702G>A (p.(Trp234*)) - FGG_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.901C>T - r.(?) p.Arg301Cys Tochigi Parent #1 g.155528085G>A g.154606933G>A Arg275Cys - FGG_000001 detected using protein sequencing PubMed: Yoshida 1988, OMIM:var0001 - - Germline yes - - 0 - protein SEQ - - afibrinogenemia, congenital - PubMed: Yoshida 1988 2-generation family, affected father and 2 daugthers - - Japan - - 0 - - 3 Johan den Dunnen
+/. 8 c.901C>T - r.(?) p.Arg301Cys Osaka II Unknown g.155528085G>A g.154606933G>A Arg275Cys - FGG_000001 detected using protein sequencing PubMed: Terukina 1988, OMIM:var0001 - - Germline yes - - 0 - protein SEQ - - afibrinogenemia, congenital - PubMed: Terukina 1988 2-generation family, affected father and daugther - yes Japan - - 0 - - 2 Johan den Dunnen
+/. 8 c.901C>T - r.(?) p.Arg301Cys Baltimore IV Parent #1 g.155528085G>A g.154606933G>A Arg275Cys - FGG_000001 detected using protein sequencing PubMed: Schmelzer 1989, OMIM:var0001 - - Germline yes - - 0 - protein SEQ - - afibrinogenemia, congenital - PubMed: Schmelzer 1989 2-generation family, affected father and daugther M ? United States - - 0 - - 2 Johan den Dunnen
+?/. - c.1036G>C likely pathogenic r.(?) p.(Asp346His) - Unknown g.155527950C>G - FGG(NM_000509.5):c.1036G>C (p.Asp346His) - FGG_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1087A>G likely pathogenic r.(?) p.(Asn363Asp) - Unknown g.155527899T>C - FGG(NM_021870.2):c.1087A>G (p.N363D) - FGG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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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.