RGD:402512398 Rat Genome Database

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Variant: RGD:402512398 -  Homo sapiens

RGD ID: 402512398
ClinVar ID: CV2948367
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSN  LOC127815781  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 124,062,180
GRCh38 9 121,299,902
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001353073.2:c.-38-163T>C
NM_001353078.2:c.-458-3009T>C
NM_001127666.2:c.-47-154T>C
NM_001353064.2:c.-47-154T>C
More... 		06/22/2023 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GSN
Accession:NM_001353065
Location:5UTRS;INTRON

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene Symbol:GSN
Accession:NM_001353060
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:NM_001353057
Location:5UTRS;INTRON

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene Symbol:GSN
Accession:NM_001127662
Location:5UTRS;INTRON

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

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

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

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

Gene Symbol:GSN
Accession:NM_000177
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPHRPAPALLCAPSLALCALSLPVRAATASRGASQAGAPQGRVPEARPNSMVVEHPEFLKAGKEPGLQIWRVEKFDLVP
VPTNLYGDFFTGDAYVILKTVQLRNGNLQYDLHYWLGNECSQDESGAAAIFTVQLDDYLNGRAVQHREVQGFESATFLGY
FKSGLKYKKGGVASGFKHVVPNEVVVQRLFQVKGRRVVRATEVPVSWESFNNGDCFILDLGNNIHQWCGSNSNRYERLKA
TQVSKGIRDNERSGRARVHVSEEGTEPEAMLQVLGPKPALPAGTEDTAKEDAANRKLAKLYKVSNGAGTMSVSLVADENP
FAQGALKSEDCFILDHGKDGKIFVWKGKQANTEERKAALKTASDFITKMDYPKQTQVSVLPEGGETPLFKQFFKNWRDPD
QTDGLGLSYLSSHIANVERVPFDAATLHTSTAMAAQHGMDDDGTGQKQIWRIEGSNKVPVDPATYGQFYGGDSYIILYNY
RHGGRQGQIIYNWQGAQSTQDEVAASAILTAQLDEELGGTPVQSRVVQGKEPAHLMSLFGGKPMIIYKGGTSREGGQTAP
ASTRLFQVRANSAGATRAVEVLPKAGALNSNDAFVLKTPSAAYLWVGTGASEAEKTGAQELLRVLRAQPVQVAEGSEPDG
FWEALGGKAAYRTSPRLKDKKMDAHPPRLFACSNKIGRFVIEEVPGELMQEDLATDDVMLLDTWDQVFVWVGKDSQEEEK
TEALTSAKRYIETDPANRDRRTPITVVKQGFEPPSFVGWFLGWDDDYWSVDPLDRAMAELAA*

Gene Symbol:GSN
Accession:NM_001258029
Location:INTRON

Gene Symbol:GSN
Accession:NM_001127663
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423265
Location:INTRON

Gene Symbol:GSN
Accession:XM_017014645
Location:INTRON

Gene Symbol:GSN
Accession:NM_001258030
Location:INTRON

Gene Symbol:GSN
Accession:XM_011518594
Location:INTRON

Gene Symbol:GSN
Accession:XM_047423266
Location:INTRON

Gene Symbol:GSN
Accession:XM_011518585
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003662622 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GSN CLINVAR
OMIM 137350 CLINVAR