RGD:15121548 Rat Genome Database

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Variant: RGD:15121548 -  Homo sapiens

RGD ID: 15121548
RS ID: rs200773661
ClinVar ID: CV692703
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTLC1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 94,842,337
GRCh38 9 92,080,055
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.11:g.94842337C>A
NM_001368272.1:c.-112G>T
NM_001368273.1:c.-78G>T
NM_001281303.2:c.388G>T
More... 		03/29/2018 5 prime utr variant likely benign|uncertain significance Charcot-Marie-Tooth Neuropathy; 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


Variant Details
Variant Transcripts
Gene Symbol:SPTLC1
Accession:NM_001368272
Location:5UTRS;EXON

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

Gene Symbol:SPTLC1
Accession:NM_178324
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPAL
NYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGLGTCGPRGFYGTFE*

Gene Symbol:SPTLC1
Accession:NM_001281303
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPAL
NYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGLGTCGPRGFYGTFDVHLDLEDRLAKFMKTEE
AIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRR
FIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCG
RSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEE
STGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPRGRTGESCVHHQGGSPGRPALGRVPGPWPPATQHAERT
QDSRWPWSGLKESKNMWIFDRIVTKWCQYGPIV*

Gene Symbol:SPTLC1
Accession:NM_006415
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPAL
NYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGLGTCGPRGFYGTFDVHLDLEDRLAKFMKTEE
AIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRR
FIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCG
RSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEE
STGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL*

Gene Symbol:SPTLC1
Accession:XM_047422638
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKNHLATLHLVIGESKLSIFKDIIKSPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGLGTCGPRGFYGT
FDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLL
KEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDID
LISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGIS
GLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAA
STIKEVAQAVLL*

Gene Symbol:SPTLC1
Accession:XM_024447378
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_024447379
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_047422639
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000874259 CLINVAR
  RCV001174078 CLINVAR
dbSNP (RS) rs200773661 CLINVAR
MedGen C0007959 CLINVAR
  C0020071 CLINVAR
NCBI Gene SPTLC1 CLINVAR
OMIM 162400 CLINVAR
  605712 CLINVAR
SNOMED CT 50548001 CLINVAR