RGD:26902136 Rat Genome Database

Variant: RGD:26902136 - Homo sapiens

RGD ID:

26902136

RS ID:

rs1833218770

ClinVar ID:

CV836288

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SPTLC1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	94,800,634
GRCh38	9	92,038,352

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_001281303.2:c.1150A>G NM_006415.4:c.1150A>G NM_001368273.1:c.685A>G NM_001368272.1:c.784A>G More...	09/05/2019	missense variant	uncertain significance	Hereditary sensory neuropathy type 1; Hereditary Sensory Neuropathy Type I; HSAN 1; HSN Type I; Neuropathy hereditary sensory radicular, autosomal dominant

Disease Annotations Click to see Annotation Detail View

hereditary sensory and autonomic neuropathy type 1 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SPTLC1
Accession:	XM_047422638
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	323

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKNHLATLHLVIGESKLSIFKDIIKSPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGT FDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLL KEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDID LISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGIS GLEVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAA STIKEVAQAVLL*

Gene Symbol:	SPTLC1
Accession:	XM_024447378
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	229

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKA RVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIG GFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLEVVGESLSPAFH LQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL*

Gene Symbol:	SPTLC1
Accession:	NM_001368273
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	229

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKA RVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIG GFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLEVVGESLSPAFH LQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL*

Gene Symbol:	SPTLC1
Accession:	XM_024447379
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	229

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKA RVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIG GFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLEVVGESLSPAFH LQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL*

Gene Symbol:	SPTLC1
Accession:	NM_006415
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	384

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPAL NYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFDVHLDLEDRLAKFMKTEE AIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRR FIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCG RSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLEVVGESLSPAFHLQLEE STGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL*

Gene Symbol:	SPTLC1
Accession:	NM_001368272
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	262

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYDFKYSEFPGSHQRRPAFYDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQAS RSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVL GEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGI FAVLKEKCGQIHKALQGISGLEVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPP SIRVVVTVEQTEEELERAASTIKEVAQAVLL*

Gene Symbol:	SPTLC1
Accession:	XM_047422639
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	257

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDHTHRRYGHQKLKKNVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIK LFKHNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGR GVTEHYGINIDDIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLK EKCGQIHKALQGISGLEVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVV VTVEQTEEELERAASTIKEVAQAVLL*

Gene Symbol:	SPTLC1
Accession:	NM_001281303
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	384

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPAL NYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFDVHLDLEDRLAKFMKTEE AIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRR FIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCG RSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLEVVGESLSPAFHLQLEE STGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPRGRTGESCVHHQGGSPGRPALGRVPGPWPPATQHAERT QDSRWPWSGLKESKNMWIFDRIVTKWCQYGPIV*

Gene Symbol:	SPTLC1
Accession:	NM_178324
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001069096	CLINVAR
dbSNP (RS)	rs1833218770	CLINVAR
MedGen	C0020071	CLINVAR
NCBI Gene	SPTLC1	CLINVAR
OMIM	162400	CLINVAR
	605712	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:26902136 - Homo sapiens

Imported Disease Annotations - ClinVar