RGD:8565575 Rat Genome Database

Variant: RGD:8565575 - Homo sapiens

RGD ID:

8565575

RS ID:

rs121909616

ClinVar ID:

CV31421

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FGB

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	155,486,975
GRCh38	4	154,565,823

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_008833.1:g.7844C>T NC_000004.12:g.154565823C>T NC_000004.11:g.155486975C>T NP_005132.2:p.Arg44Cys More...	12/06/2021	missense\|missense variant	likely pathogenic\|other	none provided; Stroke

Disease Annotations Click to see Annotation Detail View

congenital afibrinogenemia (IAGP)

Congenital Hypodysfibrinogenemia (IAGP)

Stroke (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Hypofibrinogenemia (IAGP)

Stroke (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	FGB
Accession:	NM_005141
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	44

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSACGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAA TQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQK QVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKE CEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPG EYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIH NGMFFSTYDRDNDGWLTSDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGQYTWDMAKHGTDDGVVWMNWKGSWYSMRKM SMKIRPFFPQQ*

Gene Symbol:	FGB
Accession:	NM_001382760
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	44

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSACGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAA TQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQK QVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKE CEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPG EYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIH NGMFFSTYDRDNDGCMKIRPFFPQQ*

Gene Symbol:	FGB
Accession:	NM_001382763
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	44

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSACGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAA TQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQK QVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKE CEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPGEYW LGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIHNGM FFSTYDRDNDGWLTSDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGQYTWDMAKHGTDDGVVWMNWKGSWYSMRKMSMK IRPFFPQQ*

Gene Symbol:	FGB
Accession:	NM_001382762
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	44

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSACGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAA TQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQK QVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKE CEEIIRKGGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIHNGMFFSTYDRDNDGWLTSDP RKQCSKEDGGGWWYNRCHAANPNGRYYWGGQYTWDMAKHGTDDGVVWMNWKGSWYSMRKMSMKIRPFFPQQ*

Gene Symbol:	FGB
Accession:	NM_001382759
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	44

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSACGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAA TQKKVERKAPDAGGCLHADPDLYMYLLKDLWQKRQKQVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILEN LRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKECEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQN RQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPGEYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNE ANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIHNGMFFSTYDRDNDGWLTSDPRKQCSKEDGGGWWYNRCHAANPNG RYYWGGQYTWDMAKHGTDDGVVWMNWKGSWYSMRKMSMKIRPFFPQQ*

Gene Symbol:	FGB
Accession:	NM_001382764
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	44

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSACGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAA TQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQK QVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKE CEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPG EYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTHV*

Gene Symbol:	FGB
Accession:	NM_001382765
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	44

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSACGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAA TQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQK QVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKE CEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPG EYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIH NGMFFSTLTSDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGQYTWDMAKHGTDDGVVWMNWKGSWYSMRKMSMKIRPFF PQQ*

Gene Symbol:	FGB
Accession:	NM_001184741
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	44

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSACGHRPLDKKREEALLQQERPIRNSVDELNNNVEAVSQ TSSSSFQYMYLLKDLWQKRQKQVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQ MEYCRTPCTVSCNIPVVSGKECEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQNRQDGSVDFGRKWDPY KQGFGNVATNTDGKNYCGLPGEYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTA GNALMDGASQLMGENRTMTIHNGMFFSTYDRDNDGWLTSDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGQYTWDMAKH GTDDGVVWMNWKGSWYSMRKMSMKIRPFFPQQ*

Gene Symbol:	FGB
Accession:	NM_001382761
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	44

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSACGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAA TQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQK QVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKE CEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPG EYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIH NGMFFSTYDRDNDG*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:1565641	PMID:23061815	PMID:24679643	PMID:25320241	PMID:25741868	PMID:31064749	PMID:31314131

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000017804	CLINVAR
	RCV000852015	CLINVAR
	RCV002284174	CLINVAR
	RCV002287338	CLINVAR
dbSNP (RS)	rs121909616	CLINVAR
MedGen	C0038454	CLINVAR
	C0553681	CLINVAR
	C3661900	CLINVAR
NCBI Gene	FGB	CLINVAR
OMIM	134830	CLINVAR
OMIM Allele	134830.0002	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:8565575 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

Create Name:

Description:

Send us a Message

Variant: RGD:8565575 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar