RGD:10046833 Rat Genome Database

Variant: RGD:10046833 - Homo sapiens

RGD ID:

10046833

RS ID:

rs149344567

ClinVar ID:

CV190051

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCND3

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	112,318,869
GRCh38	1	111,776,247

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	Prevalence	Trait Synonyms
LRG_445t1:c.1798G>A LRG_445:g.217909G>A NG_032011.2:g.217909G>A NC_000001.11:g.111776247C>T More...	07/18/2023	missense variant	pathogenic\|likely benign\|uncertain significance	adult	1-5 / 10 000	Brugada syndrome 9; none provided; Spinocerebellar ataxia 19; Spinocerebellar ataxia 22

Disease Annotations Click to see Annotation Detail View

Brugada syndrome 9 (IAGP)

spinocerebellar ataxia type 19/22 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	KCND3
Accession:	XM_006710629
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	600

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGVAAWLPFARAAAIGWMPVANCPMPLAPADKNKRQDELIVLNVSGRRFQTWRTTLERYPDTLLGSTEKEFFFNEDTK EYFFDRDPEVFRCVLNFYRTGKLHYPRYECISAYDDELAFYGILPEIIGDCCYEEYKDRKRENAERLMDDNDSENNQESM PSLSFRQTMWRAFENPHTSTLALVFYYVTGFFIAVSVITNVVETVPCGTVPGSKELPCGERYSVAFFCLDTACVMIFTVE YLLRLFAAPSRYRFIRSVMSIIDVVAIMPYYIGLVMTNNEDVSGAFVTLRVFRVFRIFKFSRHSQGLRILGYTLKSCASE LGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPASFWYTIVTMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVP VIVSNFSRIYHQNQRADKRRAQKKARLARIRVAKTGSSNAYLHSKRNGLLNEALELTGTPEEEHMGKTTSLIESQHHHLL HCLEKTTGLSYLVDDPLLSVRTSTIKNHEFIDEQMFEQNCMESSMQNYPSTRSPSLSSHPGLTTTCCSRRSKKTTHLPNS NLPATRLRSMQELSTIHIQGSEQPSLTTSRSSLNLKADDRLRPNCKTSQITTAIISIPTPPALTPEGESRPPPASPGPNT NIPSIASNVVKVSAL*

Gene Symbol:	KCND3
Accession:	NM_001378970
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	581

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGVAAWLPFARAAAIGWMPVANCPMPLAPADKNKRQDELIVLNVSGRRFQTWRTTLERYPDTLLGSTEKEFFFNEDTK EYFFDRDPEVFRCVLNFYRTGKLHYPRYECISAYDDELAFYGILPEIIGDCCYEEYKDRKRENAERLMDDNDSENNQESM PSLSFRQTMWRAFENPHTSTLALVFYYVTGFFIAVSVITNVVETVPCGTVPGSKELPCGERYSVAFFCLDTACVMIFTVE YLLRLFAAPSRYRFIRSVMSIIDVVAIMPYYIGLVMTNNEDVSGAFVTLRVFRVFRIFKFSRHSQGLRILGYTLKSCASE LGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPASFWYTIVTMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVP VIVSNFSRIYHQNQRADKRRAQKKARLARIRVAKTGSSNAYLHSKRNGLLNEALELTGTPEEEHMGKTTSLIESQHHHLL HCLEKTTNHEFIDEQMFEQNCMESSMQNYPSTRSPSLSSHPGLTTTCCSRRSKKTTHLPNSNLPATRLRSMQELSTIHIQ GSEQPSLTTSRSSLNLKADDRLRPNCKTSQITTAIISIPTPPALTPEGESRPPPASPGPNTNIPSIASNVVKVSAL*

Gene Symbol:	KCND3
Accession:	NM_001378969
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	600

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGVAAWLPFARAAAIGWMPVANCPMPLAPADKNKRQDELIVLNVSGRRFQTWRTTLERYPDTLLGSTEKEFFFNEDTK EYFFDRDPEVFRCVLNFYRTGKLHYPRYECISAYDDELAFYGILPEIIGDCCYEEYKDRKRENAERLMDDNDSENNQESM PSLSFRQTMWRAFENPHTSTLALVFYYVTGFFIAVSVITNVVETVPCGTVPGSKELPCGERYSVAFFCLDTACVMIFTVE YLLRLFAAPSRYRFIRSVMSIIDVVAIMPYYIGLVMTNNEDVSGAFVTLRVFRVFRIFKFSRHSQGLRILGYTLKSCASE LGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPASFWYTIVTMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVP VIVSNFSRIYHQNQRADKRRAQKKARLARIRVAKTGSSNAYLHSKRNGLLNEALELTGTPEEEHMGKTTSLIESQHHHLL HCLEKTTGLSYLVDDPLLSVRTSTIKNHEFIDEQMFEQNCMESSMQNYPSTRSPSLSSHPGLTTTCCSRRSKKTTHLPNS NLPATRLRSMQELSTIHIQGSEQPSLTTSRSSLNLKADDRLRPNCKTSQITTAIISIPTPPALTPEGESRPPPASPGPNT NIPSIASNVVKVSAL*

Gene Symbol:	KCND3
Accession:	NM_004980
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	600

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGVAAWLPFARAAAIGWMPVANCPMPLAPADKNKRQDELIVLNVSGRRFQTWRTTLERYPDTLLGSTEKEFFFNEDTK EYFFDRDPEVFRCVLNFYRTGKLHYPRYECISAYDDELAFYGILPEIIGDCCYEEYKDRKRENAERLMDDNDSENNQESM PSLSFRQTMWRAFENPHTSTLALVFYYVTGFFIAVSVITNVVETVPCGTVPGSKELPCGERYSVAFFCLDTACVMIFTVE YLLRLFAAPSRYRFIRSVMSIIDVVAIMPYYIGLVMTNNEDVSGAFVTLRVFRVFRIFKFSRHSQGLRILGYTLKSCASE LGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPASFWYTIVTMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVP VIVSNFSRIYHQNQRADKRRAQKKARLARIRVAKTGSSNAYLHSKRNGLLNEALELTGTPEEEHMGKTTSLIESQHHHLL HCLEKTTGLSYLVDDPLLSVRTSTIKNHEFIDEQMFEQNCMESSMQNYPSTRSPSLSSHPGLTTTCCSRRSKKTTHLPNS NLPATRLRSMQELSTIHIQGSEQPSLTTSRSSLNLKADDRLRPNCKTSQITTAIISIPTPPALTPEGESRPPPASPGPNT NIPSIASNVVKVSAL*

Gene Symbol:	KCND3
Accession:	NM_172198
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	581

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGVAAWLPFARAAAIGWMPVANCPMPLAPADKNKRQDELIVLNVSGRRFQTWRTTLERYPDTLLGSTEKEFFFNEDTK EYFFDRDPEVFRCVLNFYRTGKLHYPRYECISAYDDELAFYGILPEIIGDCCYEEYKDRKRENAERLMDDNDSENNQESM PSLSFRQTMWRAFENPHTSTLALVFYYVTGFFIAVSVITNVVETVPCGTVPGSKELPCGERYSVAFFCLDTACVMIFTVE YLLRLFAAPSRYRFIRSVMSIIDVVAIMPYYIGLVMTNNEDVSGAFVTLRVFRVFRIFKFSRHSQGLRILGYTLKSCASE LGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPASFWYTIVTMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVP VIVSNFSRIYHQNQRADKRRAQKKARLARIRVAKTGSSNAYLHSKRNGLLNEALELTGTPEEEHMGKTTSLIESQHHHLL HCLEKTTNHEFIDEQMFEQNCMESSMQNYPSTRSPSLSSHPGLTTTCCSRRSKKTTHLPNSNLPATRLRSMQELSTIHIQ GSEQPSLTTSRSSLNLKADDRLRPNCKTSQITTAIISIPTPPALTPEGESRPPPASPGPNTNIPSIASNVVKVSAL*

Gene Symbol:	KCND3
Accession:	XM_017001244
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	600

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGVAAWLPFARAAAIGWMPVANCPMPLAPADKNKRQDELIVLNVSGRRFQTWRTTLERYPDTLLGSTEKEFFFNEDTK EYFFDRDPEVFRCVLNFYRTGKLHYPRYECISAYDDELAFYGILPEIIGDCCYEEYKDRKRENAERLMDDNDSENNQESM PSLSFRQTMWRAFENPHTSTLALVFYYVTGFFIAVSVITNVVETVPCGTVPGSKELPCGERYSVAFFCLDTACVMIFTVE YLLRLFAAPSRYRFIRSVMSIIDVVAIMPYYIGLVMTNNEDVSGAFVTLRVFRVFRIFKFSRHSQGLRILGYTLKSCASE LGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPASFWYTIVTMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVP VIVSNFSRIYHQNQRADKRRAQKKARLARIRVAKTGSSNAYLHSKRNGLLNEALELTGTPEEEHMGKTTSLIESQHHHLL HCLEKTTGLSYLVDDPLLSVRTSTIKNHEFIDEQMFEQNCMESSMQNYPSTRSPSLSSHPGLTTTCCSRRSKKTTHLPNS NLPATRLRSMQELSTIHIQGSEQPSLTTSRSSLNLKADDRLRPNCKTSQITTAIISIPTPPALTPEGESRPPPASPGPNT NIPSIASNVVKVSAL*

Gene Symbol:	KCND3
Accession:	XM_017001245
Location:	INTRON

Gene Symbol:	KCND3
Accession:	XM_011541426
Location:	INTRON

Gene Symbol:	KCND3
Accession:	XM_006710632
Location:	INTRON

Gene Symbol:	KCND3
Accession:	XM_011541425
Location:	INTRON

Gene Symbol:	KCND3
Accession:	XM_011541427
Location:	INTRON

Gene Symbol:	KCND3
Accession:	XM_011541428
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:21349352	PMID:21640846	PMID:22284586	PMID:22336521	PMID:22457051	PMID:22840528	PMID:23400760	PMID:23414114	PMID:24762397	PMID:25214526	PMID:25741868	PMID:26016905
PMID:26467025	PMID:28492532	PMID:29053796	PMID:30662450

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000172843	CLINVAR
	RCV000619002	CLINVAR
	RCV000712060	CLINVAR
	RCV001370775	CLINVAR
	RCV002505242	CLINVAR
dbSNP (RS)	rs149344567	CLINVAR
MedGen	C1846367	CLINVAR
	C3661900	CLINVAR
	C4225340	CLINVAR
	CN230736	CLINVAR
NCBI Gene	KCND3	CLINVAR
OMIM	605411	CLINVAR
	607346	CLINVAR
	616399	CLINVAR
OMIM Allele	605411.0006	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)

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Variant: RGD:10046833 - Homo sapiens

Imported Disease Annotations - ClinVar