rs1202263036 Rat Genome Database

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Variant: rs1202263036 -  Homo sapiens

RGD ID: 151833920
RS ID: rs1202263036
ClinVar ID: CV1479210
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSN  LOC127815781  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 124,062,198
GRCh38 9 121,299,920
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001353057.2:c.-1-2051C>G
NM_001353058.2:c.-1-2051C>G
NM_001353059.2:c.-1-2051C>G
NM_001127667.2:c.-38-145C>G
More... 		12/02/2021 intron 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; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1479210HumanFinnish type amyloidosis  IAGP 8554872ClinVar Annotator: match by term: Meretoja syndromeClinVarPMID:25741868 and PMID:28492532
Gene Symbol:GSN
Accession:NM_001127662
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353066
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353061
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353055
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001127664
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:XM_005251944
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353073
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353062
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:XM_047423270
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353058
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353077
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:XM_047423268
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:XM_047423272
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353076
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:XM_047423269
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353064
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353060
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353065
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353063
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:XM_047423267
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001127665
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353059
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353075
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001127667
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353057
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353067
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353056
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353070
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:XM_047423273
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001127666
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353074
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353069
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353071
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:XM_047423271
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353068
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353054
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_198252
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353053
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353072
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_001353078
Location:5UTRS;INTRON

Gene Symbol:GSN
Accession:NM_000177
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPHRPAPALLCALSLALCGLSLPVRAATASRGASQAGAPQGRVPEARPNSMVVEHPEFLKAGKEPGLQIWRVEKFDLVP
VPTNLYGDFFTGDAYVILKTVQLRNGNLQYDLHYWLGNECSQDESGAAAIFTVQLDDYLNGRAVQHREVQGFESATFLGY
FKSGLKYKKGGVASGFKHVVPNEVVVQRLFQVKGRRVVRATEVPVSWESFNNGDCFILDLGNNIHQWCGSNSNRYERLKA
TQVSKGIRDNERSGRARVHVSEEGTEPEAMLQVLGPKPALPAGTEDTAKEDAANRKLAKLYKVSNGAGTMSVSLVADENP
FAQGALKSEDCFILDHGKDGKIFVWKGKQANTEERKAALKTASDFITKMDYPKQTQVSVLPEGGETPLFKQFFKNWRDPD
QTDGLGLSYLSSHIANVERVPFDAATLHTSTAMAAQHGMDDDGTGQKQIWRIEGSNKVPVDPATYGQFYGGDSYIILYNY
RHGGRQGQIIYNWQGAQSTQDEVAASAILTAQLDEELGGTPVQSRVVQGKEPAHLMSLFGGKPMIIYKGGTSREGGQTAP
ASTRLFQVRANSAGATRAVEVLPKAGALNSNDAFVLKTPSAAYLWVGTGASEAEKTGAQELLRVLRAQPVQVAEGSEPDG
FWEALGGKAAYRTSPRLKDKKMDAHPPRLFACSNKIGRFVIEEVPGELMQEDLATDDVMLLDTWDQVFVWVGKDSQEEEK
TEALTSAKRYIETDPANRDRRTPITVVKQGFEPPSFVGWFLGWDDDYWSVDPLDRAMAELAA*

Gene Symbol:GSN
Accession:XM_047423266
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127663
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423265
Location:INTRON

Gene Symbol:GSN
Accession:NM_001258029
Location:INTRON

Gene Symbol:GSN
Accession:XM_017014645
Location:INTRON

Gene Symbol:GSN
Accession:NM_001258030
Location:INTRON

Gene Symbol:GSN
Accession:XM_011518585
Location:INTRON

Gene Symbol:GSN
Accession:XM_011518594
Location:INTRON

.
PMID:25741868   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002050998 CLINVAR
  RCV002482426 CLINVAR
dbSNP (RS) rs1202263036 CLINVAR
MedGen C1622345 CLINVAR
  C3661900 CLINVAR
NCBI Gene GSN CLINVAR
OMIM 105120 CLINVAR
  137350 CLINVAR