RGD:126758453 Rat Genome Database

Variant: RGD:126758453 - Homo sapiens

RGD ID:

126758453

RS ID:

rs1314252199

ClinVar ID:

CV1013619

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CERS1 GDF1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	19	18,991,227
GRCh38	19	18,880,418

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_001387438.1:c.-313+3669T>C NM_001387440.1:c.608T>C NP_001374369.1:p.Ile203Thr NP_001374371.1:p.Ile105Thr More...	09/01/2020	5 prime utr variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

progressive myoclonus epilepsy 8 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	GDF1
Accession:	NM_001492
Location:	5UTRS;EXON

Gene Symbol:	GDF1
Accession:	NM_001387438
Location:	5UTRS;INTRON

Gene Symbol:	CERS1
Accession:	NM_001387442
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	105

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVV MLLHHVVTLILIVSSYAFRYHNVGSLVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFRLYW FPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAEE AVAQSSVTFFGTGGARCRHLTHPGL*

Gene Symbol:	CERS1
Accession:	NM_001387445
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	105

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVV MLLHHVVTLILIVSSYAFRYHNVGSLVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFRLYW FPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAE*

Gene Symbol:	CERS1
Accession:	NM_001387443
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	105

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVV MLLHHVVTLILIVSSYAFRYHNVGSLVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFRLYW FPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAEE AVAQSSVTFFGTGGARCRHLTHPGL*

Gene Symbol:	CERS1
Accession:	NM_001290265
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	105

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVV MLLHHVVTLILIVSSYAFRYHNVGSLVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFRLYW FPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAE*

Gene Symbol:	CERS1
Accession:	NM_001387439
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAGPAAGPTGPEPMPSYAQLVQRGWGSALAAARGCTDCGWGLARRGLAEHAHLAPPELLLLALGALGWTALRSAATAR LFRPLAKRCCLQPRDAAKMPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYG HSIYATLYMDTWRKDSVVMLLHHVVTLILIVSSYAFRYHNVGSLVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAA DLGCLSFGFSWFWFRLYWFPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDL REYDTAEAQSLKPSKAEEAVAQSSVTFFGTGGARCRHLTHPGL*

Gene Symbol:	CERS1
Accession:	NM_198207
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAGPAAGPTGPEPMPSYAQLVQRGWGSALAAARGCTDCGWGLARRGLAEHAHLAPPELLLLALGALGWTALRSAATAR LFRPLAKRCCLQPRDAAKMPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYG HSIYATLYMDTWRKDSVVMLLHHVVTLILIVSSYAFRYHNVGSLVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAA DLGCLSFGFSWFWFRLYWFPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDL REYDTAEAQSLKPSKAE*

Gene Symbol:	CERS1
Accession:	NM_001387440
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAGPAAGPTGPEPMPSYAQLVQRGWGSALAAARGCTDCGWGLARRGLAEHAHLAPPELLLLALGALGWTALRSAATAR LFRPLAKRCCLQPRDAAKMPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYG HSIYATLYMDTWRKDSVVMLLHHVVTLILIVSSYAFRYHNVGSLVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAA DLGCLSFGFSWFWFRLYWFPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDL REYDTAEAQSLKPSKAEKPLRNGLVKDKRF*

Gene Symbol:	CERS1
Accession:	NM_001387444
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	105

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVV MLLHHVVTLILIVSSYAFRYHNVGSLVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFRLYW FPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAE*

Gene Symbol:	CERS1
Accession:	NM_021267
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAGPAAGPTGPEPMPSYAQLVQRGWGSALAAARGCTDCGWGLARRGLAEHAHLAPPELLLLALGALGWTALRSAATAR LFRPLAKRCCLQPRDAAKMPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYG HSIYATLYMDTWRKDSVVMLLHHVVTLILIVSSYAFRYHNVGSLVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAA DLGCLSFGFSWFWFRLYWFPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDL REYDTAEAQSLKPSKAEKPLRNGLVKDKRF*

Gene Symbol:	CERS1
Accession:	NM_001387441
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001317783	CLINVAR
dbSNP (RS)	rs1314252199	CLINVAR
MedGen	C5190825	CLINVAR
NCBI Gene	CERS1	CLINVAR
	GDF1	CLINVAR
OMIM	602880	CLINVAR
	606919	CLINVAR
	616230	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:126758453 - Homo sapiens

Imported Disease Annotations - ClinVar