RGD:15200403 Rat Genome Database

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Variant: RGD:15200403 -  Homo sapiens

RGD ID: 15200403
RS ID: rs1587899962
ClinVar ID: CV775583
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTLC1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 94,797,169
GRCh38 9 92,034,887
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001281303.2:c.1255-4A>G
NM_006415.4:c.1255-4A>G
NM_001368273.1:c.790-4A>G
NM_001368272.1:c.889-4A>G
More... 		07/06/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SPTLC1
Accession:NM_001368272
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_024447379
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_178324
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_024447378
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_001368273
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_047422638
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_006415
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_001281303
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_047422639
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000935371 CLINVAR
dbSNP (RS) rs1587899962 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SPTLC1 CLINVAR
OMIM 605712 CLINVAR