RGD:597671330 Rat Genome Database

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Variant: RGD:597671330 -  Homo sapiens

RGD ID: 597671330
ClinVar ID: CV3729151
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSN  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 124,065,259
GRCh38 9 121,302,981
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001353078.2:c.-388C>A
NM_001127662.2:c.267C>A
NM_001127664.2:c.267C>A
NM_001127665.2:c.267C>A
More... 		04/22/2024 5 prime utr variant uncertain significance 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
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3729151HumanFinnish type amyloidosis  IAGP 8554872ClinVar Annotator: match by term: Finnish type amyloidosisClinVarPMID:25741868


.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV005043789 CLINVAR
MedGen C1622345 CLINVAR
NCBI Gene GSN CLINVAR
OMIM 105120 CLINVAR
  137350 CLINVAR