RGD:8596929 Rat Genome Database

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Variant: RGD:8596929 -  Homo sapiens

RGD ID: 8596929
RS ID: rs80338760
ClinVar ID: CV20904
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEPTIN9  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 75,316,275
GRCh38 17 77,320,193
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_011683.1:g.43784G>C
NC_000017.11:g.77320193G>C
NC_000017.10:g.75316275G>C
NM_001293695.2:c.19+38639G>C
More... 		12/06/2012 5 prime utr variant|intron pathogenic adulthood 1-9 / 100 000|6-9 / 10 000 Amyotrophy, hereditary neuralgic; Amyotrophy, hereditary neuralgic, with predilection for brachial plexus; Brachial plexus neuropathy, hereditary; Neuritis with brachial predilection
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SEPTIN9
Accession:NM_006640
Location:5UTRS;EXON

Gene Symbol:SEPTIN9
Accession:NM_001113492
Location:5UTRS;INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113496
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113495
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113491
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001293695
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001293698
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001293697
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001293696
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113494
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113493
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16186812   PMID:20301569  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000006223 CLINVAR
dbSNP (RS) rs80338760 CLINVAR
MedGen C1834304 CLINVAR
NCBI Gene SEPT9 CLINVAR
OMIM 162100 CLINVAR
  604061 CLINVAR
OMIM Allele 604061.0003 CLINVAR