RGD:8600180 Rat Genome Database

Variant: RGD:8600180 - Homo sapiens

RGD ID:

8600180

RS ID:

rs121913088

ClinVar ID:

CV31401

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FGG

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	155,528,084
GRCh38	4	154,606,932

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_008834.1:g.10819G>A NC_000004.12:g.154606932C>T NC_000004.11:g.155528084C>T NP_000500.2:p.Arg301His More...	07/14/2023	missense\|missense variant	pathogenic\|other	Dysfibrinogenemia, congenital; none provided

Disease Annotations Click to see Annotation Detail View

congenital afibrinogenemia (IAGP)

Congenital Dysfibrinogenemia (IAGP)

Congenital Hypodysfibrinogenemia (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Hypofibrinogenemia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	FGG
Accession:	NM_000509
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	301

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQTKVDKDLQSLEDILHQVENKT SEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIMKYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQ CQEPCKDTVQIHDITGKDCQDIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEG FGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKYHLTYAYFAGGDAGDAFDGFD FGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAEQDGSGWWMNKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKT RWYSMKKTTMKIIPFNRLTIGEGQQHHLGGAKQAGDV*

Gene Symbol:	FGG
Accession:	NM_021870
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	301

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQTKVDKDLQSLEDILHQVENKT SEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIMKYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQ CQEPCKDTVQIHDITGKDCQDIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEG FGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKYHLTYAYFAGGDAGDAFDGFD FGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAEQDGSGWWMNKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKT RWYSMKKTTMKIIPFNRLTIGEGQQHHLGGAKQVRPEHPAETEYDSLYPEDDL*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:1733971	PMID:2512677	PMID:2976995	PMID:3563970	PMID:6654188	PMID:25741868	PMID:31064749	PMID:34355501

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000017777	CLINVAR
	RCV000851952	CLINVAR
	RCV002225266	CLINVAR
	RCV003151729	CLINVAR
dbSNP (RS)	rs121913088	CLINVAR
MedGen	C0272350	CLINVAR
	C0553681	CLINVAR
	C3661900	CLINVAR
NCBI Gene	FGG	CLINVAR
OMIM	134850	CLINVAR
	616004	CLINVAR
OMIM Allele	134850.0002	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:8600180 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8600180 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar