RGD:11620834 Rat Genome Database

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Variant: RGD:11620834 -  Homo sapiens

RGD ID: 11620834
RS ID: rs146295173
ClinVar ID: CV330869
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTLC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 77,976,918
GRCh38 14 77,510,575
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_004863.4:c.*1709G>A
NM_004863.3:c.*1709G>A
LRG_371t1:c.*1709G>A
LRG_371:g.111193G>A
More... 		01/12/2018 3 prime utr variant benign|likely benign all ages Hereditary sensory and autonomic neuropathy type IC; HSAN IC; HSN IC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPTLC2
Accession:NM_004863
Location:3UTRS;EXON

Gene Symbol:SPTLC2
Accession:XM_011537384
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000341736 CLINVAR
dbSNP (RS) rs146295173 CLINVAR
MedGen C3150896 CLINVAR
NCBI Gene SPTLC2 CLINVAR
OMIM 605713 CLINVAR
  613640 CLINVAR