rs2056615240 Rat Genome Database

rs2056615240 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs2056615240 - Homo sapiens

RGD ID:

151846479

RS ID:

rs2056615240

ClinVar ID:

CV1495189

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	19	19,006,724
GRCh38	19	18,895,915

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001387443.1:c.-46+811C>G NM_001387438.1:c.-745C>G NM_001492.6:c.-1165C>G NM_001387445.1:c.-318C>G More...	09/02/2021	5 prime utr variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1495189	Human	progressive myoclonus epilepsy 8		IAGP		8554872	ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8	ClinVar	PMID:28492532

Gene Symbol:	CERS1
Accession:	NM_001387444
Location:	5UTRS;EXON

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

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

Gene Symbol:	CERS1
Accession:	NM_001387445
Location:	5UTRS;EXON

Gene Symbol:	CERS1
Accession:	NM_001290265
Location:	5UTRS;INTRON

Gene Symbol:	CERS1
Accession:	NM_001387442
Location:	5UTRS;INTRON

Gene Symbol:	CERS1
Accession:	NM_001387443
Location:	5UTRS;INTRON

Gene Symbol:	CERS1
Accession:	NM_021267
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	53

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

Gene Symbol:	CERS1
Accession:	NM_001387440
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	53

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

Gene Symbol:	CERS1
Accession:	NM_001387439
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	53

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

Gene Symbol:	CERS1
Accession:	NM_001387441
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	53

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAGPAAGPTGPEPMPSYAQLVQRGWGSALAAARGCTDCGWGLARRGLAEHAHLAPPELLLLALGALGWTALRSAATAR LFRPLAKRCCLQPRDAAKMPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYG HSIYATLYMDTWRKDSVVMLLHHVVTLILIVSSYAFRDVQLEFTKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFR LYWFPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSK AE*

Gene Symbol:	CERS1
Accession:	NM_198207
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	53

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001978347	CLINVAR
dbSNP (RS)	rs2056615240	CLINVAR
MedGen	C5190825	CLINVAR
NCBI Gene	CERS1	CLINVAR
	GDF1	CLINVAR
OMIM	602880	CLINVAR
	606919	CLINVAR
	616230	CLINVAR