RGD:10049354 Rat Genome Database

Variant: RGD:10049354 - Homo sapiens

RGD ID:

10049354

RS ID:

rs200092211

ClinVar ID:

CV190285

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CACNB4

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	152,955,521
GRCh38	2	152,099,007

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	Age of Onset	Trait Synonyms
NG_012641.1:g.5073C>T NC_000002.12:g.152099007G>A NC_000002.11:g.152955521G>A NP_000717.2:p.Ser2Phe More...	04/07/2021	2kb upstream variant\|missense variant	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	adolescent	AllHighlyPenetrant; EIG; Epilepsy, idiopathic generalized 9; Episodic ataxia type 5; Generalised epilepsy; Janz syndrome; none provided; Petit mal, impulsive

Disease Annotations Click to see Annotation Detail View

episodic ataxia type 5 (IAGP)

idiopathic generalized epilepsy (IAGP)

idiopathic generalized epilepsy 9 (IAGP)

juvenile myoclonic epilepsy (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Generalized-onset seizure (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CACNB4
Accession:	NM_000726
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQ AAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENI RIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQK ALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPA QLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWR ATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQH SRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL*

Gene Symbol:	CACNB4
Accession:	XM_047445794
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQ AAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENI RIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEDFNNESD S*

Gene Symbol:	CACNB4
Accession:	XM_047445795
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQ AAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENI RIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTDGAHSSLRCCTVNASGGVSGAVTERLRGNRHDAESPL*

Gene Symbol:	CACNB4
Accession:	XM_047445796
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQ AAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENI RIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTDGAHSSLRCCTVNASGGVSGAVTERLRELEMSEG*

Gene Symbol:	CACNB4
Accession:	XM_047445797
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQ AAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENI RIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTDGAHSSLRCCTVNASGGVSGAVTERLRGFQ*

Gene Symbol:	CACNB4
Accession:	XM_011511797
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQ AAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENI RIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTDGAHSSLRCCTVNASGGVSGAVTERLRAEVQSEIERIFELA RSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQ LEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYH NERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL*

Gene Symbol:	CACNB4
Accession:	XM_047445793
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQ AAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENI RIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYESWKCQRD EQESGLQKSSHGHGEFPPTYTN*

Gene Symbol:	CACNB4
Accession:	NM_001145798
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQ AAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENI RIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQK ALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPA QLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPSQRMRHSNHSTENSPIERRSLMTSDENY HNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL*

Gene Symbol:	CACNB4
Accession:	XR_007081584
Location:	EXON;NON-CODING

Gene Symbol:	CACNB4
Accession:	NM_001330114
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	NM_001330116
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	XM_047445792
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	NM_001005746
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	NM_001005747
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	XM_047445798
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	NM_001330113
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	NM_001330115
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	XM_047445790
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	NM_001330117
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	XM_047445791
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	XM_011511796
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	NM_001330118
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	XM_017004888
Location:	INTRON

Gene Symbol:	CACNB4
Accession:	NM_001320722
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:26467025	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000195021	CLINVAR
	RCV000286296	CLINVAR
	RCV000341315	CLINVAR
	RCV000515346	CLINVAR
	RCV000660363	CLINVAR
	RCV000724000	CLINVAR
	RCV001079683	CLINVAR
	RCV003927579	CLINVAR
dbSNP (RS)	rs200092211	CLINVAR
MedGen	C0270850	CLINVAR
	C0270853	CLINVAR
	C1866039	CLINVAR
	C2750887	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	CACNB4	CLINVAR
	LOC129934925	CLINVAR
OMIM	254770	CLINVAR
	600669	CLINVAR
	601949	CLINVAR
	607682	CLINVAR
	613855	CLINVAR
SNOMED CT	36803009	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:10049354 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:10049354 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar