RGD:8556011 Rat Genome Database

Variant: RGD:8556011 - Homo sapiens

RGD ID:

8556011

RS ID:

rs118204456

ClinVar ID:

CV16208

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

F12 LOC127404865

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	5	176,831,232
GRCh38	5	177,404,231

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	Prevalence	Trait Synonyms
LRG_145t1:c.983C>A LRG_145:g.10346C>A NG_007568.1:g.10346C>A NC_000005.10:g.177404231G>T More...	07/14/2021	missense\|missense variant	pathogenic	1-9 / 100 000	ANGIOEDEMA, HEREDITARY, TYPE I; Angioedemas, Hereditary; ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION; C1 ESTERASE INHIBITOR DEFICIENCY; Coagulation factor 12 deficiency; Congenital factor XII deficiency; ESTROGEN-RELATED HAE; ESTROGEN-SENSITIVE HAE; F12 deficiency; Factor 12 deficiency; HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION; HAF deficiency; Hereditary Angioedema; Hereditary angioedema type 3; Hereditary angioedema, type III; none provided; Reduced factor XII activity

Disease Annotations Click to see Annotation Detail View

C1 inhibitor deficiency (IAGP)

factor XII deficiency (IAGP)

hereditary angioedema (IAGP)

hereditary angioedema type I (IAGP)

hereditary angioedema type III (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Reduced factor XII activity (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	F12
Accession:	NM_000505
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	328

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHKCTHKGRPGPQPWCATTPNFD QDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCLCPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVAR CQCKGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHCPVGYTGAFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQP WASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQAAPPTPVSPRLHVPLMPAQP APPKPQPMTRTPPQSQTPGALPAKREQPPSLTRNGPLSCGQRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGS LIAPCWVLTAAHCLQDRPAPEDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSP YVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQ GDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYTDVAYYLAWIREHTVS*

Gene Symbol:	F12
Accession:	XM_011534462
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	216

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPSGPHCLCPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRTNPCLHGGRCLEV EGHRLCHCPVGYTGAFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDND IRPWCFVLNRDRLSWEYCDLAQCQTPTQAAPPTPVSPRLHVPLMPAQPAPPKPQPMTRTPPQSQTPGALPAKREQPPSLT RNGPLSCGQRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAPEDLTVVLGQERR NHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSPYVQPVCLPSGAARPSETTLCQVAGWGHQFEGA EEYASFLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGD RNKPGVYTDVAYYLAWIREHTVS*

Gene Symbol:	SLC34A1
Accession:	NM_001167579
Location:	INTRON

Gene Symbol:	SLC34A1
Accession:	NM_003052
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:10984376	PMID:16638441	PMID:17186468	PMID:17825897	PMID:19178938	PMID:19474702	PMID:20490261	PMID:22920075	PMID:24033266	PMID:25741868	PMID:25744496	PMID:25790805
PMID:27130860	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000001228	CLINVAR
	RCV000222890	CLINVAR
	RCV000255869	CLINVAR
	RCV000763138	CLINVAR
dbSNP (RS)	rs118204456	CLINVAR
MedGen	C0015526	CLINVAR
	C0019243	CLINVAR
	C1857728	CLINVAR
	C3661900	CLINVAR
NCBI Gene	F12	CLINVAR
	SLC34A1	CLINVAR
OMIM	106100	CLINVAR
	182309	CLINVAR
	234000	CLINVAR
	610618	CLINVAR
	610619	CLINVAR
OMIM Allele	610619.0006	CLINVAR
SNOMED CT	46981006	CLINVAR
	82966003	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:8556011 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8556011 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar