RGD:14721674 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:14721674 -  Homo sapiens

RGD ID: 14721674
RS ID: rs760514210
ClinVar ID: CV652226
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTLC1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 94,812,237
GRCh38 9 92,049,955
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001368273.1:c.423+5G>T
NM_001368272.1:c.522+5G>T
NM_001281303.2:c.888+5G>T
NM_006415.4:c.888+5G>T
More...
10/03/2018 intron variant uncertain significance 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: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_024447378
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_001368272
Location:INTRON

Gene Symbol:SPTLC1
Accession:NM_001368273
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_047422638
Location:INTRON

Gene Symbol:SPTLC1
Accession:XM_047422639
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000813577 CLINVAR
dbSNP (RS) rs760514210 CLINVAR
MedGen C0020071 CLINVAR
NCBI Gene SPTLC1 CLINVAR
OMIM 162400 CLINVAR
  605712 CLINVAR