rs769809173 Rat Genome Database

rs769809173 Rat Genome Database

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Variant: rs769809173 - Homo sapiens

RGD ID:

126757135

RS ID:

rs769809173

ClinVar ID:

CV1034175

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	19	18,990,129
GRCh38	19	18,879,320

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001387438.1:c.-313+4767C>T NM_001492.6:c.-502C>T NM_001290265.2:c.527C>T NM_001387442.1:c.527C>T More...	07/19/2022	5 prime utr variant	uncertain significance	AllHighlyPenetrant

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1034175	Human	progressive myoclonus epilepsy 8		IAGP		8554872	ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8	ClinVar	PMID:28492532

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

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

Gene Symbol:	CERS1
Accession:	NM_001387440
Location:	EXON
Amino Acid Prediction:	T to K (nonsynonymous)
Amino Acid Position:	274

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

Gene Symbol:	CERS1
Accession:	NM_001387439
Location:	EXON
Amino Acid Prediction:	T to K (nonsynonymous)
Amino Acid Position:	274

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

Gene Symbol:	CERS1
Accession:	NM_001290265
Location:	EXON
Amino Acid Prediction:	T to K (nonsynonymous)
Amino Acid Position:	176

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVV MLLHHVVTLILIVSSYAFRYHNVGILVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFRLYW FPLKVLYATSHCSLRKVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAE*

Gene Symbol:	CERS1
Accession:	NM_021267
Location:	EXON
Amino Acid Prediction:	T to K (nonsynonymous)
Amino Acid Position:	274

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

Gene Symbol:	CERS1
Accession:	NM_001387442
Location:	EXON
Amino Acid Prediction:	T to K (nonsynonymous)
Amino Acid Position:	176

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVV MLLHHVVTLILIVSSYAFRYHNVGILVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFRLYW FPLKVLYATSHCSLRKVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAEE AVAQSSVTFFGTGGARCRHLTHPGL*

Gene Symbol:	CERS1
Accession:	NM_001387444
Location:	EXON
Amino Acid Prediction:	T to K (nonsynonymous)
Amino Acid Position:	176

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVV MLLHHVVTLILIVSSYAFRYHNVGILVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFRLYW FPLKVLYATSHCSLRKVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAE*

Gene Symbol:	CERS1
Accession:	NM_198207
Location:	EXON
Amino Acid Prediction:	T to K (nonsynonymous)
Amino Acid Position:	274

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

Gene Symbol:	CERS1
Accession:	NM_001387445
Location:	EXON
Amino Acid Prediction:	T to K (nonsynonymous)
Amino Acid Position:	176

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVV MLLHHVVTLILIVSSYAFRYHNVGILVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFRLYW FPLKVLYATSHCSLRKVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAE*

Gene Symbol:	CERS1
Accession:	NM_001387441
Location:	EXON
Amino Acid Prediction:	T to K (nonsynonymous)
Amino Acid Position:	259

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

Gene Symbol:	CERS1
Accession:	NM_001387443
Location:	EXON
Amino Acid Prediction:	T to K (nonsynonymous)
Amino Acid Position:	176

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVV MLLHHVVTLILIVSSYAFRYHNVGILVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFRLYW FPLKVLYATSHCSLRKVPDIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAEE AVAQSSVTFFGTGGARCRHLTHPGL*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001339481	CLINVAR
	RCV004035900	CLINVAR
dbSNP (RS)	rs769809173	CLINVAR
MedGen	C5190825	CLINVAR
	CN169374	CLINVAR
NCBI Gene	CERS1	CLINVAR
	GDF1	CLINVAR
OMIM	602880	CLINVAR
	606919	CLINVAR
	616230	CLINVAR