RGD:11612005 Rat Genome Database

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Variant: RGD:11612005 -  Homo sapiens

RGD ID: 11612005
RS ID: rs200704785
ClinVar ID: CV319967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTLC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 94,800,520
GRCh38 9 92,038,238
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_001281303.2:c.1254+10C>T
NM_006415.4:c.1254+10C>T
NM_001368273.1:c.789+10C>T
NC_000009.11:g.94800520G>A
More... 		02/27/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity all ages AllHighlyPenetrant; Charcot-Marie-Tooth Neuropathy; Hereditary sensory neuropathy type 1; Hereditary Sensory Neuropathy Type I; Hereditary Sensory Neuropathy Type IA; HSAN 1; HSAN IA; HSN IA; HSN Type I; Neuropathy hereditary sensory radicular, autosomal dominant; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL DOMINANT, TYPE 1A

Variant Details
Variant Transcripts
Gene Symbol:SPTLC1
Accession:NM_001368272
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_178324
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_001281303
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_024447379
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_047422639
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_006415
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_047422638
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_024447378
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_001368273
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000402445 CLINVAR
  RCV000423230 CLINVAR
  RCV001172886 CLINVAR
  RCV001249808 CLINVAR
dbSNP (RS) rs200704785 CLINVAR
MedGen C0007959 CLINVAR
  C0020071 CLINVAR
  C5235211 CLINVAR
  CN169374 CLINVAR
NCBI Gene SPTLC1 CLINVAR
OMIM 162400 CLINVAR
  605712 CLINVAR
SNOMED CT 50548001 CLINVAR