RGD:15134109 Rat Genome Database

Variant: RGD:15134109 - Homo sapiens

RGD ID:

15134109

RS ID:

rs554167374

ClinVar ID:

CV762720

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CERKL

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	182,521,637
GRCh38	2	181,656,910

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_001030311.3:c.97T>G NP_001025482.1:p.Leu33Val NP_001025484.1:p.Leu33Val NC_000002.12:g.181656910A>C More...	01/17/2020	missense variant	likely benign\|uncertain significance	none provided; RP 26; Tapetoretinal degeneration

Disease Annotations Click to see Annotation Detail View

retinitis pigmentosa (IAGP)

retinitis pigmentosa 26 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Rod-cone dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CERKL
Accession:	NM_001160277
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPWRRRRNRVSALEGGREEEAPPEAAAVPPALVTSPQQTEAAAERILLRGIFEIGRDSCDVVLSERALRWRPIQPERPAG DSKYDLLCKEEFIELKDIFSVKLKRRCSVKQQRSGTLLGITLFICLKKEQNKLKNSTLDLINLSEDHCDIWFRQFKKILA VMEYEGHALSLLKECELQGFDGGHRKPLFAIHWSVQRLFTGMQTLEPSVVCVGGDGSASEVAHALLLRAQKNAGMETDRI LTPVRAQLPLGLIPAGSTNVLAHSLHGVPHVITATLHIIMGHVQLVDVCTFSTAGKLLRFGFSAMFGFGGRTLALAEKYR WMSPNQRRDFAVVKALAKLKAEDCEISFLPFNSSDDVQERRAQGSPKSDCNDQWQMIQGQFLNVSIMAIPCLCSVAPRGL APNTRLNNGSMALIIARNTSRPEFIKHLKRYASVKNQFNFPFVETYTVEEVKVHPRNNTGGYNPEEEEDETASENCFPWN VDGDLMEVASEVHIRLHPRLISLYGGSMEEMIPK*

Gene Symbol:	CERKL
Accession:	NM_001030312
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPWRRRRNRVSALEGGREEEAPPEAAAVPPALVTSPQQTEAAAERILLRGIFEIGRDSCDVVLSERALRWRPIQPERPAG DSKYDLLCKEEFIELKDIFSVKLKRRCSVKQQRSGTLLGITLFICLKKEQNKLKNSTLDLINLSEDHCDIWFRQFKKILA GSTNVLAHSLHGVPHVITATLHIIMGHVQLVDVCTFSTAGKLLRFGFSAMFGFGGRTLALAEKYRWMSPNQRRDFAVVKA LAKLKAEDCEISFLPFNSSDDVQERRAQGSPKSDCNDQWQMIQGQFLNVSIMAIPCLCSVAPRGLAPNTRLNNGSMALII ARNTSRPEFIKHLKRYASVKNQFNFPFVETYTVEEVKVHPRNNTGGYNPEEEEDETASENCFPWNVDGDLMEVASEVHIR LHPRLISLYGGSMEEMIPK*

Gene Symbol:	CERKL
Accession:	NM_001030313
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPWRRRRNRVSALEGGREEEAPPEAAAVPPALVTSPQQTEAAAERILLRGIFEIGRDSCDVVLSERALRWRPIQPERPAG DSKYDLLCKEEFIELKDIFSVKLKRRCSVKQQRSGTLLGITLFICLKKEQNKLKNSTLDLINLSEDHCDIWFRQFKKILA GFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTRSTNVLAHSLHGVPHVITATLHIIMGHVQLVDVCTF STAGKLLRFGFSAMFGFGGRTLALAEKYRWMSPNQRRDFAVVKALAKLKAEDCEISFLPFNSSDDVQERRAQGSPKSDCN DQWQMIQGQFLNVSIMAIPCLCSVAPRGLAPNTRLNNGSMALIIARNTSRPEFIKHLKRYASVKNQFNFPFVETYTVEEV KVHPRNNTGGYNPEEEEDETASENCFPWNVDGDLMEVASEVHIRLHPRLISLYGGSMEEMIPK*

Gene Symbol:	CERKL
Accession:	NM_001030311
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPWRRRRNRVSALEGGREEEAPPEAAAVPPALVTSPQQTEAAAERILLRGIFEIGRDSCDVVLSERALRWRPIQPERPAG DSKYDLLCKEEFIELKDIFSVKLKRRCSVKQQRSGTLLGITLFICLKKEQNKLKNSTLDLINLSEDHCDIWFRQFKKILA GFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTIMEYEGHALSLLKECELQGFDGGHRKPLFAIHWSVQ RLFTGMQTLEPSVVCVGGDGSASEVAHALLLRAQKNAGMETDRILTPVRAQLPLGLIPAGSTNVLAHSLHGVPHVITATL HIIMGHVQLVDVCTFSTAGKLLRFGFSAMFGFGGRTLALAEKYRWMSPNQRRDFAVVKALAKLKAEDCEISFLPFNSSDD VQERRAQGSPKSDCNDQWQMIQGQFLNVSIMAIPCLCSVAPRGLAPNTRLNNGSMALIIARNTSRPEFIKHLKRYASVKN QFNFPFVETYTVEEVKVHPRNNTGGYNPEEEEDETASENCFPWNVDGDLMEVASEVHIRLHPRLISLYGGSMEEMIPK*

Gene Symbol:	CERKL
Accession:	NM_201548
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPWRRRRNRVSALEGGREEEAPPEAAAVPPALVTSPQQTEAAAERILLRGIFEIGRDSCDVVLSERALRWRPIQPERPAG DSKYDLLCKEEFIELKDIFSVKLKRRCSVKQQRSGTLLGITLFICLKKEQNKLKNSTLDLINLSEDHCDIWFRQFKKILA GFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTIMEYEGHALSLLKECELQGFDGVVCVGGDGSASEVA HALLLRAQKNAGMETDRILTPVRAQLPLGLIPAGSTNVLAHSLHGVPHVITATLHIIMGHVQLVDVCTFSTAGKLLRFGF SAMFGFGGRTLALAEKYRWMSPNQRRDFAVVKALAKLKAEDCEISFLPFNSSDDVQERRAQGSPKSDCNDQWQMIQGQFL NVSIMAIPCLCSVAPRGLAPNTRLNNGSMALIIARNTSRPEFIKHLKRYASVKNQFNFPFVETYTVEEVKVHPRNNTGGY NPEEEEDETASENCFPWNVDGDLMEVASEVHIRLHPRLISLYGGSMEEMIPK*

Gene Symbol:	CERKL
Accession:	NR_027689
Location:	EXON;NON-CODING

Gene Symbol:	CERKL
Accession:	NR_027690
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000942689	CLINVAR
	RCV001138255	CLINVAR
	RCV001271352	CLINVAR
dbSNP (RS)	rs554167374	CLINVAR
MedGen	C0035334	CLINVAR
	C1842127	CLINVAR
	C3661900	CLINVAR
NCBI Gene	CERKL	CLINVAR
OMIM	268000	CLINVAR
	608380	CLINVAR
	608381	CLINVAR
SNOMED CT	28835009	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:15134109 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:15134109 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar