RGD:26909442 Rat Genome Database

Variant: RGD:26909442 - Homo sapiens

RGD ID:

26909442

RS ID:

rs2046156366

ClinVar ID:

CV856843

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CLN3

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	28,495,327
GRCh38	16	28,484,006

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
LRG_689t1:c.790G>C LRG_689t2:c.790G>C NM_001286105.2:c.490G>C NM_001286109.2:c.556G>C More...	02/26/2019	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

fundus dystrophy (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Retinal dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CLN3
Accession:	NM_001286109
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSAAHDILSHKRTSGNQSHAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFA SISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQD PGGEEEAESAARQPLIRTEAPESKPRSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQ YRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIAL ETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:	CLN3
Accession:	NM_001042432
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	264

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPT PIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASI SSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPG GEEEAESAARQPLIRTEAPESKPRSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYR WYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALET SDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:	CLN3
Accession:	NM_001286105
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWTQAQRRSPTTAHHDLTATLSLRLPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAV ISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPE SKPRSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCC RIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGI SLSGLLALPLHDFLCQLS*

Gene Symbol:	CLN3
Accession:	NM_001286110
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	210

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSAAHDILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGIC AAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLL SMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPRSSSSLSLRERWTVFKGLLWYIVPLVVVYFA EYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLV FLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:	CLN3
Accession:	NM_000086
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	264

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPT PIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASI SSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPG GEEEAESAARQPLIRTEAPESKPRSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYR WYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALET SDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS*

Gene Symbol:	CLN3
Accession:	NM_001286104
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	240

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHAVLLAD ILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWW SSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPR SSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRF TWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSG LLALPLHDFLCQLS*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001073451	CLINVAR
dbSNP (RS)	rs2046156366	CLINVAR
MedGen	C0854723	CLINVAR
NCBI Gene	CLN3	CLINVAR
OMIM	607042	CLINVAR
SNOMED CT	314407005	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:26909442 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:26909442 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar