RGD:11609647 Rat Genome Database

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Variant: RGD:11609647 -  Homo sapiens

RGD ID: 11609647
RS ID: rs146379508
ClinVar ID: CV306647
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 124,064,452
GRCh38 9 121,302,174
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.121302174C>T
NC_000009.11:g.124064452C>T
NM_001353078.2:c.-458-737C>T
NM_001127662.2:c.196+7C>T
More... 		07/06/2018 intron variant benign|likely benign Amyloid cranial neuropathy with lattice corneal dystrophy; Amyloidosis 5; Amyloidosis due to mutant gelsolin; Amyloidosis Finnish type; Amyloidosis, familial, Finnish type; Lattice corneal dystrophy associated with familial systemic amyloidosis; Lattice dystrophy of the cornea with hereditary generalized amyloidosis; Meretoja type amyloidosis; Meretoja's syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GSN
Accession:NM_001353078
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353061
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353067
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353065
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353072
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353074
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127667
Location:INTRON

Gene Symbol:GSN
Accession:NM_001258030
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353077
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423265
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353053
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423271
Location:INTRON

Gene Symbol:GSN
Accession:XM_011518594
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353069
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353066
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353055
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127664
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127665
Location:INTRON

Gene Symbol:GSN
Accession:NM_198252
Location:INTRON

Gene Symbol:GSN
Accession:XM_011518585
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353064
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353056
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353071
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423272
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127662
Location:INTRON

Gene Symbol:GSN
Accession:XM_005251944
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353068
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353057
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423273
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127666
Location:INTRON

Gene Symbol:GSN
Accession:NM_001258029
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353058
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353054
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353076
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353070
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353075
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423268
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423266
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127663
Location:INTRON

Gene Symbol:GSN
Accession:XM_017014645
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423267
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423270
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353060
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353063
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353062
Location:INTRON

Gene Symbol:GSN
Accession:NM_000177
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353073
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353059
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423269
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000371221 CLINVAR
  RCV000879016 CLINVAR
dbSNP (RS) rs146379508 CLINVAR
MedGen C1622345 CLINVAR
  C3661900 CLINVAR
NCBI Gene GSN CLINVAR
OMIM 105120 CLINVAR
  137350 CLINVAR
SNOMED CT 419398009 CLINVAR