RGD:150439033 Rat Genome Database

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Variant: RGD:150439033 -  Homo sapiens

RGD ID: 150439033
RS ID: rs9813847
ClinVar ID: CV1266881
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN11A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 38,962,758
GRCh38 3 38,921,267
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.713-12C>A
NC_000003.11:g.38962758G>T
NM_014139.3:c.713-12C>A
NG_033859.2:g.135720C>A
More... 		08/07/2018 intron variant benign AllHighlyPenetrant; Episodic pain syndrome, familial, 3; Familial episodic pain syndrome with predominantly lower limb involvement; HSAN VII; Neuropathy, hereditary sensory and autonomic, type VII; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCN11A
Accession:NM_014139
Location:INTRON

Gene Symbol:SCN11A
Accession:XM_011533321
Location:INTRON

Gene Symbol:SCN11A
Accession:XM_017005650
Location:INTRON

Gene Symbol:SCN11A
Accession:XM_017005651
Location:INTRON

Gene Symbol:SCN11A
Accession:XM_017005653
Location:INTRON

Gene Symbol:SCN11A
Accession:NM_001349253
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001690317 CLINVAR
  RCV001700799 CLINVAR
  RCV002073227 CLINVAR
dbSNP (RS) rs9813847 CLINVAR
MedGen C3661900 CLINVAR
  C3809882 CLINVAR
  CN169374 CLINVAR
NCBI Gene SCN11A CLINVAR
OMIM 604385 CLINVAR
  615548 CLINVAR
  615552 CLINVAR