RGD:11627358 Rat Genome Database

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Variant: RGD:11627358 -  Homo sapiens

RGD ID: 11627358
RS ID: rs73377525
ClinVar ID: CV346209
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEPTIN9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 75,484,804
GRCh38 17 77,488,722
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.77488722C>T
NC_000017.10:g.75484804C>T
NM_001293695.2:c.1068-5C>T
NM_001113493.2:c.1104-5C>T
More...
12/18/2021 intron variant benign|likely 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:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113491
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_006640
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113494
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113493
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113496
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113495
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001293695
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001293696
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001293697
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001293698
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000280075 CLINVAR
  RCV001571790 CLINVAR
dbSNP (RS) rs73377525 CLINVAR
MedGen C1834304 CLINVAR
  C3661900 CLINVAR
NCBI Gene SEPT9 CLINVAR
OMIM 162100 CLINVAR
  604061 CLINVAR