RGD:11609630 Rat Genome Database

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Variant: RGD:11609630 -  Homo sapiens

RGD ID: 11609630
RS ID: rs532533522
ClinVar ID: CV321578
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTLC2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 77,977,434
GRCh38 14 77,511,091
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_371t1:c.*1193G>C
LRG_371:g.110677G>C
NG_028282.1:g.110677G>C
NC_000014.9:g.77511091C>G
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance 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 RCV000370996 CLINVAR
dbSNP (RS) rs532533522 CLINVAR
MedGen C3150896 CLINVAR
NCBI Gene SPTLC2 CLINVAR
OMIM 605713 CLINVAR
  613640 CLINVAR