All transcript variants in gene GSN

Information The variants shown are described using the NM_000177.4 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 4 c.580G>A - r.(?) p.(Gly194Arg) g.124073037G>A - - - GSN_000003 GSN peptides identified in fibrillary deposits using LC-MS/MS PubMed: Sethi 2013, Journal: Sethi 2013 - Unknown ? - - 0 - Johan den Dunnen
+/+ 4 c.640G>A - r.(640g>a) p.(Asp214Asn) g.124073097G>A - 654G>A, D187N - GSN_000001 Finnish major mutation: >28 Finnish FAF families and FAF patients (all homo). Also 2 American FAF families, 1 Dutch FAF family and 5 Japanese FAF families (all hom), and 1 Mexican patient with FAF (het). PubMed: Levy 1990, PubMed: Maury 1990, PubMed: Hiltunen 1991, PubMed: Paunio 1992, PubMed: de la Chapelle 1992a, PubMed: 1992b, PubMed: Taira 2012, PubMed: Gonzalez-Rodriguez 2014 rs121909715 SUMMARY record yes - - 0 - Anne Polvi
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 not in 90 control chromosomes PubMed: Maury 1990, Journal: Maury 1990 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 not in 90 control chromosomes; {PMID:Maury 1990:02176550} shows Asp214Asn change using protein sequencing PubMed: Maury 1990, Journal: Maury 1990 rs121909715 Unknown ? - - 0 - Johan den Dunnen
+/. 4 c.640G>A - - p.Asp214Asn g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 Asp214Asn change detected using protein sequencing PubMed: Maury 1990 rs121909715 Unknown ? - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 not in 26 control chromosomes PubMed: Levy 1990, Journal: Levy 1990 rs121909715 Unknown ? - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: Hiltunen 1991, PubMed: Paunio 1992, Journal: Paunio 1992 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.640g>a p.Asp214Asn g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: Hiltunen 1991, PubMed: Paunio 1992, Journal: Paunio 1992 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: Hiltunen 1991, PubMed: Paunio 1992, Journal: Paunio 1992 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: Maury 1992 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: Maury 1992 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A - GSN_000001 - PubMed: Gorevic 1991 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 performed extensive haplotype analysis PubMed: Taira 2012 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 performed extensive haplotype analysis PubMed: Taira 2012 rs121909715 Unknown ? - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 performed extensive haplotype analysis PubMed: Taira 2012 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 performed extensive haplotype analysis PubMed: Taira 2012 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 performed extensive haplotype analysis PubMed: Taira 2012 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: Gonzalez-Rodriguez 2014 rs121909715 Unknown ? - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - G654A (Asp187Asn) - GSN_000001 - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) g.124073097G>A - - - GSN_000001 - PubMed: Stewart 2000, Journal: Stewart 2000 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/+ 4 c.640G>T - r.(640g>u) p.(Asp214Tyr) g.124073097G>T - 654G>T, D187Y - GSN_000002 1 Danish, 1 Czech, 1 Brazilian and 1 French FAF family (all hom) PubMed: de la Chapelle et al. 1992, PubMed: Solari et al. 2011, PubMed: Chastan et al. 2006 rs121909715 SUMMARY record yes - - 0 - Anne Polvi
+/. 4 c.640G>T - r.(?) p.(Asp214Tyr) g.124073097G>T - G654T (Asp187Tyr) - GSN_000002 - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992, OMIM:var0002 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>T - r.(?) p.(Asp214Tyr) g.124073097G>T - G654T (Asp187Tyr) - GSN_000002 - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992, OMIM:var0002 rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. 4 c.640G>T - r.(?) p.(Asp214Tyr) g.124073097G>T - G654T - GSN_000002 - PubMed: Solari 2011, Journal: Solari 2011 rs121909715 Unknown yes - - 0 - Johan den Dunnen
+/. 4 c.640G>T - r.(?) p.(Asp214Tyr) g.124073097G>T - 654G>T - GSN_000002 - PubMed: Chastan 2006, Journal: Chastan 2006 rs121909715 Germline yes - - 0 - Johan den Dunnen
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