rs113863232 Rat Genome Database

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Variant: rs113863232 -  Homo sapiens

RGD ID: 152145728
RS ID: rs113863232
ClinVar ID: CV1564210
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 124,083,693
GRCh38 9 121,321,415
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127662.2:c.1325+14G>A
NM_001127664.2:c.1325+14G>A
NM_001127665.2:c.1325+14G>A
NM_001353053.1:c.1325+14G>A
More... 		01/29/2024 intron variant likely benign Amyloid cranial neuropathy with lattice corneal dystrophy; Amyloidosis 5; Amyloidosis due to mutant gelsolin; Amyloidosis, familial, Finnish type; AMYLOIDOSIS, HEREDITARY SYSTEMIC 4, 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_001258030
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353066
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353067
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127663
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353073
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423271
Location:INTRON

Gene Symbol:GSN
Accession:NM_198252
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353070
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127664
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353077
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423270
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423269
Location:INTRON

Gene Symbol:GSN
Accession:XM_005251944
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353071
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127667
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353064
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127666
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353065
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423272
Location:INTRON

Gene Symbol:GSN
Accession:XM_011518594
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353075
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423273
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423266
Location:INTRON

Gene Symbol:GSN
Accession:XM_011518585
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353054
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353068
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353076
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353062
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423268
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127662
Location:INTRON

Gene Symbol:GSN
Accession:XM_017014645
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353058
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353069
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353057
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353053
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353056
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353074
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353055
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353078
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423265
Location:INTRON

Gene Symbol:GSN
Accession:NM_000177
Location:INTRON

Gene Symbol:GSN
Accession:NM_001258029
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423267
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353072
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127665
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353060
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353061
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353059
Location:INTRON

Gene Symbol:GSN
Accession:NM_001353063
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV002138777 CLINVAR
  RCV002505811 CLINVAR
dbSNP (RS) rs113863232 CLINVAR
MedGen C1622345 CLINVAR
  C3661900 CLINVAR
NCBI Gene GSN CLINVAR
OMIM 105120 CLINVAR
  137350 CLINVAR