RGD:13520097 Rat Genome Database

Variant: RGD:13520097 - Homo sapiens

RGD ID:

13520097

RS ID:

rs558998873

ClinVar ID:

CV492005

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CACNB4

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	152,737,416
GRCh38	2	151,880,902

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
NM_001330117.2:c.-271C>T NM_001320722.3:c.147C>T NM_001005747.4:c.186C>T NM_001330116.2:c.147C>T More...	11/25/2019	5 prime utr variant\|synonymous variant	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	EIG; Generalised epilepsy; none provided

Disease Annotations Click to see Annotation Detail View

idiopathic generalized epilepsy (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Generalized-onset seizure (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CACNB4
Accession:	XM_047445791
Location:	5UTRS;EXON

Gene Symbol:	CACNB4
Accession:	NM_001330114
Location:	5UTRS;EXON

Gene Symbol:	CACNB4
Accession:	NM_001330117
Location:	5UTRS;EXON

Gene Symbol:	CACNB4
Accession:	NM_001145798
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	96

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

Gene Symbol:	CACNB4
Accession:	XM_011511797
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	96

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

Gene Symbol:	CACNB4
Accession:	NM_001320722
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	49

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLH IKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVT EHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRS SLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKL AQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTEN SPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL*

Gene Symbol:	CACNB4
Accession:	XM_047445795
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	96

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

Gene Symbol:	CACNB4
Accession:	XM_047445793
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	96

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

Gene Symbol:	CACNB4
Accession:	XM_047445798
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	62

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVP STAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRA TPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEDFNNESDS*

Gene Symbol:	CACNB4
Accession:	XM_047445796
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	96

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

Gene Symbol:	CACNB4
Accession:	NM_001330113
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	78

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDVVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVK TNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSG NSSSSLGEMVSGTFRATPTSTDGAHSSLRCCTVNASGGVSGAVTERLRAEVQSEIERIFELARSLQLVVLDADTINHPAQ LIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRA THTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHS RDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL*

Gene Symbol:	CACNB4
Accession:	NM_001330118
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	49

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLH IKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVT EHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRS SLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKL AQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTEN SPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL*

Gene Symbol:	CACNB4
Accession:	XM_047445790
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	49

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLH IKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVT EHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRS SLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKL AQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTEN SPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL*

Gene Symbol:	CACNB4
Accession:	NM_001330115
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	62

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVP STAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRA TPTSTDGAHSSLRCCTVNASGGVSGAVTERLRAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVS SPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRN LGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQ DTYKPHRNRGSPGGYSHDSRHRL*

Gene Symbol:	CACNB4
Accession:	XM_047445797
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	96

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

Gene Symbol:	CACNB4
Accession:	NM_000726
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	96

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

Gene Symbol:	CACNB4
Accession:	NM_001330116
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	49

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLH IKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTDGAHSSLR CCTVNASGGVSGAVTERLRAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRG KSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAI SGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPG GYSHDSRHRL*

Gene Symbol:	CACNB4
Accession:	NM_001005746
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	78

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDVVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVK TNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSG NSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITR VTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSS PKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNL GSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQD TYKPHRNRGSPGGYSHDSRHRL*

Gene Symbol:	CACNB4
Accession:	NM_001005747
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	62

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYDNLYLHGIEDSEAGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVP STAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRA TPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNP SKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQS KHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQ SQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSH DSRHRL*

Gene Symbol:	CACNB4
Accession:	XM_011511796
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	48

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHI KEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTE HIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSS LAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLA QCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENS PIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL*

Gene Symbol:	CACNB4
Accession:	XM_047445794
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	96

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

Gene Symbol:	CACNB4
Accession:	XM_017004888
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	78

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDVVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVK TNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSG NSSSSLGEMVSGTFRATPTSTDGAHSSLRCCTVNASGGVSGAVTERLRELEMSEG*

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

Gene Symbol:	CACNB4
Accession:	XM_047445792
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:26467025	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000598376	CLINVAR
	RCV001477894	CLINVAR
dbSNP (RS)	rs558998873	CLINVAR
MedGen	C0270850	CLINVAR
	C3661900	CLINVAR
NCBI Gene	CACNB4	CLINVAR
OMIM	600669	CLINVAR
	601949	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:13520097 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13520097 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar