All transcript variants in gene GSN

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

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.144+43_144+49dup likely benign - - g.124062326_124062332dup - GSN:NM_000177.4:c.144+42_144+43insATTGTAA, NM_001127662.1:c.-9-1916_-9-1915insATTGTAA, … - GSN_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.144+122G>T VUS r.(=) p.(=) g.124062405G>T - GSN:c.100-1836G>T - GSN_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.144+122G>T VUS - - g.124062405G>T - GSN:NM_001127662.1:c.-9-1836G>T, NM_001127664.1:c.-9-1836G>T, … - GSN_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.456C>T likely benign - - g.124065295C>T - GSN:NM_000177.4:c.456C>T, NM_001127662.1:c.303C>T, … - GSN_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 4 c.580G>A - r.(?) p.(Gly194Arg) g.124073037G>A g.121310759G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>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 g.121310819G>T 654G>T - GSN_000002 - PubMed: Chastan 2006, Journal: Chastan 2006 - rs121909715 Germline yes - - 0 - Johan den Dunnen
-?/. - c.666+19T>C likely benign - - g.124073142T>C - GSN:NM_000177.4:c.666+19T>C, NM_001127662.1:c.513+19T>C, … - GSN_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.691A>G likely benign - - g.124074641A>G - GSN:NM_000177.4:c.691A>G, NM_001127662.1:c.538A>G, … - GSN_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1039+19G>T likely benign - - g.124079515G>T - GSN:NM_000177.4:c.1039+19G>T, NM_001127662.1:c.886+19G>T, … - GSN_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1392A>G VUS - - g.124083593A>G - GSN:NM_000177.4:c.1392A>G, NM_001127662.1:c.1239A>G, … - GSN_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1392A>G likely benign - - g.124083593A>G - GSN:NM_000177.4:c.1392A>G, NM_001127662.1:c.1239A>G, … - GSN_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1441C>T likely benign r.(?) p.(Arg481Cys) g.124083642C>T - GSN:c.1396C>T (R466C) - GSN_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1462C>A VUS - - g.124083663C>A - GSN:NM_000177.4:c.1462C>A, NM_001127662.1:c.1309C>A, … - GSN_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1484G>T VUS r.(?) p.(Gly495Val) g.124086837G>T - GSN:c.1439G>T (G480V) - GSN_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1585G>A VUS r.(?) p.(Gly529Ser) g.124088805G>A - GSN:NM_000177.4:c.1585G>A (Gly529Ser) - GSN_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1688C>G likely benign - - g.124088908C>G - GSN:NM_000177.4:c.1688C>G, NM_001127662.1:c.1535C>G, … - GSN_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1688C>G benign - - g.124088908C>G - GSN:NM_000177.4:c.1688C>G, NM_001127662.1:c.1535C>G, … - GSN_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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