RGD:126738364 Rat Genome Database

Variant: RGD:126738364 - Homo sapiens

RGD ID:

126738364

RS ID:

rs1834357727

ClinVar ID:

CV1029272

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SPTLC1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	94,830,372
GRCh38	9	92,068,090

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
LRG_272:g.52319T>G NG_007950.1:g.52319T>G NM_001368273.1:c.-30T>G NM_001368272.1:c.70T>G More...	08/12/2020	5 prime utr 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_024447378
Location:	5UTRS;EXON

Gene Symbol:	SPTLC1
Accession:	XM_024447379
Location:	5UTRS;EXON

Gene Symbol:	SPTLC1
Accession:	NM_001368273
Location:	5UTRS;EXON

Gene Symbol:	SPTLC1
Accession:	NM_001368272
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYDFKYSEFPGSHQRRPAFYDVHVDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQAS RSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVL GEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGI FAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPP SIRVVVTVEQTEEELERAASTIKEVAQAVLL*

Gene Symbol:	SPTLC1
Accession:	XM_047422638
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	85

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKNHLATLHLVIGESKLSIFKDIIKSPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGT FDVHVDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLL KEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDID LISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGIS GLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAA STIKEVAQAVLL*

Gene Symbol:	SPTLC1
Accession:	XM_047422639
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	19

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDHTHRRYGHQKLKKNVHVDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIK LFKHNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGR GVTEHYGINIDDIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLK EKCGQIHKALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVV VTVEQTEEELERAASTIKEVAQAVLL*

Gene Symbol:	SPTLC1
Accession:	NM_006415
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	146

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPAL NYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFDVHVDLEDRLAKFMKTEE AIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRR FIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCG RSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEE STGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL*

Gene Symbol:	SPTLC1
Accession:	NM_001281303
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	146

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPAL NYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFDVHVDLEDRLAKFMKTEE AIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRR FIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCG RSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEE 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	RCV001350467	CLINVAR
dbSNP (RS)	rs1834357727	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:126738364 - Homo sapiens

Imported Disease Annotations - ClinVar