RGD:11603900 Rat Genome Database

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Variant: RGD:11603900 -  Homo sapiens

RGD ID: 11603900
RS ID: rs768395365
ClinVar ID: CV313578
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTLC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 94,793,997
GRCh38 9 92,031,715
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_272:g.88694C>T
NG_007950.1:g.88694C>T
NC_000009.12:g.92031715G>A
NC_000009.11:g.94793997G>A
More... 		06/14/2016 3 prime utr variant uncertain significance all ages Hereditary Sensory Neuropathy Type IA; HSAN IA; HSN IA; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL DOMINANT, TYPE 1A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPTLC1
Accession:NM_001368273
Location:3UTRS;EXON

Gene Symbol:SPTLC1
Accession:XM_047422639
Location:3UTRS;EXON

Gene Symbol:SPTLC1
Accession:NM_001281303
Location:3UTRS;EXON

Gene Symbol:SPTLC1
Accession:XM_024447378
Location:3UTRS;EXON

Gene Symbol:SPTLC1
Accession:XM_047422638
Location:3UTRS;EXON

Gene Symbol:SPTLC1
Accession:XM_024447379
Location:3UTRS;EXON

Gene Symbol:SPTLC1
Accession:NM_006415
Location:3UTRS;EXON

Gene Symbol:SPTLC1
Accession:NM_001368272
Location:3UTRS;EXON

Gene Symbol:SPTLC1
Accession:NM_178324
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000304227 CLINVAR
dbSNP (RS) rs768395365 CLINVAR
MedGen C5235211 CLINVAR
NCBI Gene SPTLC1 CLINVAR
OMIM 162400 CLINVAR
  605712 CLINVAR