RGD:15143064 Rat Genome Database

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Variant: RGD:15143064 -  Homo sapiens

RGD ID: 15143064
RS ID: rs772355996
ClinVar ID: CV695451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTLC1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 94,808,340
GRCh38 9 92,046,058
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.1082-5T>C
NM_006415.4:c.1082-5T>C
NM_001368273.1:c.617-5T>C
NM_001368272.1:c.716-5T>C
More... 		04/10/2018 intron variant likely benign 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_006415
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_047422639
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_024447378
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_024447379
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_047422638
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_178324
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_001281303
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_001368272
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_001368273
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000877986 CLINVAR
dbSNP (RS) rs772355996 CLINVAR
MedGen C0020071 CLINVAR
NCBI Gene SPTLC1 CLINVAR
OMIM 162400 CLINVAR
  605712 CLINVAR