All variants in the GSN gene

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

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.-17392C>T r.(?) p.(=) - VUS g.124044748C>T g.121282470C>T GSN(NM_001127663.1):c.19C>T (p.R7C) - GSN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-17391G>A r.(?) p.(=) - VUS g.124044749G>A - GSN(NM_001127663.1):c.20G>A (p.R7H) - GSN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-13690A>G r.(?) p.(=) - likely benign g.124048450A>G - GSN(NM_001258029.1):c.29A>G (p.N10S) - GSN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.111G>A r.(?) p.(Ala37=) - likely benign g.124062250G>A g.121299972G>A GSN(NM_000177.4):c.111G>A (p.A37=) - GSN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.119C>T r.(?) p.(Pro40Leu) - likely benign g.124062258C>T - GSN(NM_000177.5):c.119C>T (p.P40L) - GSN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.144+43_144+49dup r.(=) p.(=) - VUS g.124062326_124062332dup g.121300048_121300054dup GSN(NM_000177.4):c.144+42_144+43insATTGTAA (p.(=)) - GSN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.144+122G>T r.(=) p.(=) - VUS g.124062405G>T g.121300127G>T GSN(NM_001127662.1):c.-9-1836G>T (p.(=)), GSN(NM_001127663.2):c.100-1836G>T - GSN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.144+122G>T r.(=) p.(=) - VUS g.124062405G>T g.121300127G>T GSN(NM_001127662.1):c.-9-1836G>T (p.(=)), GSN(NM_001127663.2):c.100-1836G>T - GSN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.349+7C>T r.(=) p.(=) - likely benign g.124064452C>T - GSN(NM_000177.5):c.349+7C>T - GSN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.396C>T r.(?) p.(Thr132=) - likely benign g.124065235C>T g.121302957C>T GSN(NM_001353053.1):c.243C>T (p.T81=) - GSN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.424C>T r.(?) p.(Arg142Trp) - likely benign g.124065263C>T g.121302985C>T GSN(NM_001353053.1):c.271C>T (p.R91W) - GSN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.444G>T r.(?) p.(Glu148Asp) - likely pathogenic g.124065283G>T g.121303005G>T GSN(NM_000177.4):c.444G>T(p.E148D); COL4A4(NM_000092.4):c.930+1G>A; TNXB(NM_019105.6):c.8201_8202insC(p.E2735Terfs*1) - GSN_000049 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 200 - 0 - LOVD
-?/. - c.456C>T r.(?) p.(Phe152=) - likely benign g.124065295C>T g.121303017C>T GSN(NM_001127663.1):c.411C>T (p.F137=) - GSN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.475G>A r.(?) p.(Gly159Ser) - likely benign g.124065314G>A g.121303036G>A GSN(NM_001353053.1):c.322G>A (p.G108S) - GSN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 c.580G>A r.(?) p.(Gly194Arg) - pathogenic 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
?/. - c.584G>A r.(?) p.(Arg195Gln) - VUS g.124073041G>A g.121310763G>A GSN(NM_001127663.1):c.539G>A (p.R180Q) - GSN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 4 c.640G>A r.(640g>a) p.(Asp214Asn) - pathogenic 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) - pathogenic 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) - pathogenic 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 r.(?) p.Asp214Asn - pathogenic 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) - pathogenic 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) - pathogenic 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 - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic g.124073097G>A g.121310819G>A - - GSN_000001 - PubMed: Stewart 2000, Journal: Stewart 2000 - rs121909715 Germline yes - - 0 - Johan den Dunnen
+/. - c.640G>A r.(?) p.(Asp214Asn) - pathogenic g.124073097G>A - GSN(NM_000177.5):c.640G>A (p.D214N) - GSN_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 4 c.640G>T r.(640g>u) p.(Asp214Tyr) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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) - pathogenic 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+1G>A r.spl? p.? - VUS g.124073124G>A g.121310846G>A GSN(NM_001127663.1):c.621+1G>A - GSN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.700C>T r.(?) p.(Arg234Trp) - VUS g.124074650C>T g.121312372C>T GSN(NM_001353053.1):c.547C>T (p.R183W) - GSN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.750C>T r.(?) p.(Asn250=) - likely benign g.124074700C>T g.121312422C>T GSN(NM_000177.5):c.750C>T (p.N250=), GSN(NM_001127663.1):c.705C>T (p.N235=) - GSN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.750C>T r.(?) p.(Asn250=) - likely benign g.124074700C>T - GSN(NM_000177.5):c.750C>T (p.N250=), GSN(NM_001127663.1):c.705C>T (p.N235=) - GSN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1162C>T r.(?) p.(Leu388=) - likely benign g.124080976C>T g.121318698C>T GSN(NM_001127663.1):c.1117C>T (p.L373=) - GSN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1357G>A r.(?) p.(Glu453Lys) - VUS g.124083558G>A - GSN(NM_001353053.1):c.1204G>A (p.E402K) - GSN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1378G>A r.(?) p.(Val460Met) - likely benign g.124083579G>A g.121321301G>A GSN(NM_001127663.1):c.1333G>A (p.V445M) - GSN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1392A>G r.(?) p.(Thr464=) - benign g.124083593A>G g.121321315A>G GSN(NM_001127663.1):c.1347A>G (p.T449=) - GSN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1441C>T r.(?) p.(Arg481Cys) - likely benign g.124083642C>T g.121321364C>T GSN(NM_001127663.1):c.1396C>T (p.R466C) - GSN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1484G>T r.(?) p.(Gly495Val) - VUS g.124086837G>T g.121324559G>T GSN(NM_001127663.2):c.1439G>T (p.G480V) - GSN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1551G>A r.(?) p.(Leu517=) - likely benign g.124086904G>A - GSN(NM_001353053.1):c.1398G>A (p.L466=) - GSN_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1570A>G r.(?) p.(Ser524Gly) - VUS g.124088790A>G g.121326512A>G GSN(NM_000177.4):c.1570A>G (p.(Ser524Gly)) - GSN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1574G>A r.(?) p.(Arg525His) - VUS g.124088794G>A g.121326516G>A GSN(NM_001127663.1):c.1529G>A (p.R510H) - GSN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1585G>A r.(?) p.(Gly529Ser) - VUS g.124088805G>A g.121326527G>A - - GSN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1594C>A r.(?) p.(Pro532Thr) - VUS g.124088814C>A - GSN(NM_000177.5):c.1594C>A (p.P532T) - GSN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1708G>A r.(?) p.(Ala570Thr) - likely benign g.124088928G>A g.121326650G>A GSN(NM_001353053.1):c.1555G>A (p.A519T) - GSN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1816G>A r.(?) p.(Val606Met) - likely benign g.124089661G>A - GSN(NM_001353053.1):c.1663G>A (p.V555M) - GSN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1823C>T r.(?) p.(Thr608Ile) - likely benign g.124089668C>T g.121327390C>T GSN(NM_001127663.1):c.1778C>T (p.T593I) - GSN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1880C>G r.(?) p.(Ala627Gly) - VUS g.124089725C>G g.121327447C>G GSN(NM_001127663.1):c.1835C>G (p.A612G) - GSN_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1915+10G>A r.(=) p.(=) - likely benign g.124089770G>A g.121327492G>A GSN(NM_001127663.1):c.1870+10G>A - GSN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1935G>A r.(?) p.(Leu645=) - likely benign g.124091188G>A - GSN(NM_001353053.1):c.1782G>A (p.L594=) - GSN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2027T>C r.(?) p.(Ile676Thr) - VUS g.124091280T>C g.121329002T>C GSN(NM_001127663.1):c.1982T>C (p.I661T) - GSN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2218C>T r.(?) p.(Arg740Trp) - VUS g.124094750C>T - GSN(NM_001353053.1):c.2065C>T (p.R689W) - GSN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2277G>A r.(?) p.(Trp759Ter) - VUS g.124094809G>A g.121332531G>A GSN(NM_001353053.1):c.2124G>A (p.W708*) - GSN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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