RGD:38464167 Rat Genome Database

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Variant: RGD:38464167 -  Homo sapiens

RGD ID: 38464167
RS ID: rs762476726
ClinVar ID: CV959923
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTLC1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 94,843,250
GRCh38 9 92,080,968
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001368272.1:c.-239-5C>G
NM_006415.4:c.261-5C>G
LRG_272:g.39441C>G
NG_007950.1:g.39441C>G
More... 		10/28/2019 intron 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


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

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

Gene Symbol:SPTLC1
Accession:XM_024447379
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_006415
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_178324
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_001281303
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_047422638
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_047422639
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_024447378
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001235882 CLINVAR
dbSNP (RS) rs762476726 CLINVAR
MedGen C0020071 CLINVAR
NCBI Gene SPTLC1 CLINVAR
OMIM 162400 CLINVAR
  605712 CLINVAR