RGD:407478288 Rat Genome Database

RGD:407478288 Rat Genome Database

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Variant: RGD:407478288 - Homo sapiens

RGD ID:

407478288

ClinVar ID:

CV3429084

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	19	19,006,781
GRCh38	19	18,895,972

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001492.6:c.-1222C>T NM_001387445.1:c.-375C>T NM_001387444.1:c.-428C>T NM_001290265.2:c.-46+589C>T More...	06/11/2024	5 prime utr variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	CERS1
Accession:	NM_001387445
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_001387444
Location:	5UTRS;EXON

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

Gene Symbol:	CERS1
Accession:	NM_001290265
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 E (nonsynonymous)
Amino Acid Position:	34

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

Gene Symbol:	CERS1
Accession:	NM_001387441
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	34

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

Gene Symbol:	CERS1
Accession:	NM_001387439
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	34

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

Gene Symbol:	CERS1
Accession:	NM_001387440
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	34

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

Gene Symbol:	CERS1
Accession:	NM_198207
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	34

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004615082	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	CERS1	CLINVAR
	GDF1	CLINVAR
OMIM	602880	CLINVAR
	606919	CLINVAR