RGD:26914391 Rat Genome Database

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Variant: RGD:26914391 -  Homo sapiens

RGD ID: 26914391
RS ID: rs373458111
ClinVar ID: CV851387
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN11A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 38,908,952
GRCh38 3 38,867,461
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001349253.2:c.3814-3C>T
NM_014139.3:c.3814-3C>T
NG_033859.2:g.189526C>T
NC_000003.12:g.38867461G>A
More... 		01/21/2020 intron variant likely benign|uncertain significance Episodic pain syndrome, familial, 3; Familial episodic pain syndrome with predominantly lower limb involvement; HSAN VII; Neuropathy, hereditary sensory and autonomic, type VII
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCN11A
Accession:XM_017005650
Location:INTRON

Gene Symbol:SCN11A
Accession:NM_001349253
Location:INTRON

Gene Symbol:SCN11A
Accession:XM_017005653
Location:INTRON

Gene Symbol:SCN11A
Accession:XM_011533321
Location:INTRON

Gene Symbol:SCN11A
Accession:NM_014139
Location:INTRON

Gene Symbol:SCN11A
Accession:XM_017005651
Location:INTRON

Gene Symbol:SCN11A
Accession:XM_047447378
Location:INTRON

Gene Symbol:SCN11A
Accession:NR_164473
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001040630 CLINVAR
  RCV002354997 CLINVAR
dbSNP (RS) rs373458111 CLINVAR
MedGen C0950123 CLINVAR
  C3809882 CLINVAR
NCBI Gene SCN11A CLINVAR
OMIM 604385 CLINVAR
  615548 CLINVAR
  615552 CLINVAR