RGD:15187345 Rat Genome Database

Variant: RGD:15187345 - Homo sapiens

RGD ID:

15187345

RS ID:

rs1375319601

ClinVar ID:

CV731727

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC124904420 SNX27

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	151,584,692
GRCh38	1	151,612,216

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_001330723.2:c.15C>T NM_030918.6:c.15C>T NC_000001.11:g.151612216C>T NC_000001.10:g.151584692C>T More...	03/28/2018	synonymous variant	likely benign	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A; Dravet syndrome; Epilepsy, Myoclonic, Infantile, Severe; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)

Disease Annotations Click to see Annotation Detail View

Dravet syndrome (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SNX27
Accession:	XM_005245510
Location:	5UTRS;EXON

Gene Symbol:	SNX27
Accession:	XM_047431290
Location:	5UTRS;EXON

Gene Symbol:	SNX27
Accession:	XM_024450038
Location:	5UTRS;EXON

Gene Symbol:	SNX27
Accession:	XM_005245511
Location:	5UTRS;EXON

Gene Symbol:	SNX27
Accession:	XM_047431289
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	5

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVSEGGQLRSINGELYAPLQH VYNVYMAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEF LSESDENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQVYQAIAAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKL YIQNYTSAVPGTCLTIRKWLFTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTC EGYNEIIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVK IFTPYFNYMHECFERVFCELKWRKEEY*

Gene Symbol:	SNX27
Accession:	NM_001330723
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	5

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVSEGGQLRSINGELYAPLQH VSAVLPGGAADRAGVRKGDRILEVNHVNVEGATHKQVVDLIRAGEKELILTVLSVPPHEADNLDPSDDSLGQSFYDYTEK QAVPISVPRYKHVEQNGEKFVVYNVYMAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLE EYLEKVCSIRVIGESDIMQEFLSESDENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQVYQAIAAKVGMDSTTVNYFAL FEVISHSFVRKLAPNEFPHKLYIQNYTSAVPGTCLTIRKWLFTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSY QLQKLYEQRKMVMYLNMLRTCEGYNEIIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTD EEGMAFCFEYARGEKKPRWVKIFTPYFNYMHECFERVFCELKWRKENIFQMARSQQRDVAT*

Gene Symbol:	SNX27
Accession:	XM_017002417
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	5

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVYNVYMAGRQLCSKRYREFA ILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEFLSESDENYNGVSDVELRVAL PDGTTVTVRVKKNSTTDQVYQAIAAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKLYIQNYTSAVPGTCLTIRKWL FTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTCEGYNEIIFPHCACDSRRKGH VITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVKIFTPYFNYMHECFERVFCEL KWRKEEY*

Gene Symbol:	SNX27
Accession:	XM_011510024
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	5

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVSEGGQLRSINGELYAPLQH VYNVYMAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEF LSESDENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQVYQAIAAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKL YIQNYTSAVPGTCLTIRKWLFTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTC EGYNEIIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVK IFTPYFNYMHECFERVFCELKWRKENIFQMARSQQRDVAT*

Gene Symbol:	SNX27
Accession:	NM_030918
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	5

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVSEGGQLRSINGELYAPLQH VSAVLPGGAADRAGVRKGDRILEVNHVNVEGATHKQVVDLIRAGEKELILTVLSVPPHEADNLDPSDDSLGQSFYDYTEK QAVPISVPRYKHVEQNGEKFVVYNVYMAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLE EYLEKVCSIRVIGESDIMQEFLSESDENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQVYQAIAAKVGMDSTTVNYFAL FEVISHSFVRKLAPNEFPHKLYIQNYTSAVPGTCLTIRKWLFTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSY QLQKLYEQRKMVMYLNMLRTCEGYNEIIFPHCACDSRRKGHVITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTD EEGMAFCFEYARGEKKPRWVKIFTPYFNYMHECFERVFCELKWRKEEY*

Gene Symbol:	SNX27
Accession:	XM_011510025
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	5

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVYNVYMAGRQLCSKRYREFA ILHQNLKREFANFTFPRLPGKWPFSLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEFLSESDENYNGVSDVELRVAL PDGTTVTVRVKKNSTTDQVYQAIAAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKLYIQNYTSAVPGTCLTIRKWL FTTEEEILLNDNDLAVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTCEGYNEIIFPHCACDSRRKGH VITAISITHFKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVKIFTPYFNYMHECFERVFCEL KWRKENIFQMARSQQRDVAT*

Gene Symbol:	LOC124904420
Accession:	XR_007066622
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	RCV001468847	CLINVAR
dbSNP (RS)	rs1375319601	CLINVAR
MedGen	C0751122	CLINVAR
NCBI Gene	LOC129931442	CLINVAR
	SNX27	CLINVAR
OMIM	607208	CLINVAR
	611541	CLINVAR
SNOMED CT	230437002	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:15187345 - Homo sapiens

Imported Disease Annotations - ClinVar