RGD:11631941 Rat Genome Database

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Variant: RGD:11631941 -  Homo sapiens

RGD ID: 11631941
RS ID: rs9897357
ClinVar ID: CV346232
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEPTIN9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 75,495,023
GRCh38 17 77,498,941
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.77498941C>T
NC_000017.10:g.75495023C>T
NM_001113491.2:c.*283C>T
NM_001293696.2:c.*283C>T
More... 		12/05/2021 3 prime utr variant benign Amyotrophy, hereditary neuralgic; Amyotrophy, hereditary neuralgic, with predilection for brachial plexus; Brachial plexus neuropathy, hereditary; Neuritis with brachial predilection; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SEPTIN9
Accession:NM_001113492
Location:3UTRS;EXON

Gene Symbol:SEPTIN9
Accession:NM_006640
Location:3UTRS;EXON

Gene Symbol:SEPTIN9
Accession:NM_001113495
Location:3UTRS;EXON

Gene Symbol:SEPTIN9
Accession:NM_001113493
Location:3UTRS;EXON

Gene Symbol:SEPTIN9
Accession:NM_001113494
Location:3UTRS;EXON

Gene Symbol:SEPTIN9
Accession:NM_001113496
Location:3UTRS;EXON

Gene Symbol:SEPTIN9
Accession:NM_001293696
Location:3UTRS;EXON

Gene Symbol:SEPTIN9
Accession:NM_001293697
Location:3UTRS;EXON

Gene Symbol:SEPTIN9
Accession:NM_001293698
Location:3UTRS;EXON

Gene Symbol:SEPTIN9
Accession:NM_001293695
Location:3UTRS;EXON

Gene Symbol:SEPTIN9
Accession:NM_001113491
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000392806 CLINVAR
  RCV001636919 CLINVAR
dbSNP (RS) rs9897357 CLINVAR
MedGen C1834304 CLINVAR
  C3661900 CLINVAR
NCBI Gene SEPT9 CLINVAR
OMIM 162100 CLINVAR
  604061 CLINVAR