Full data view for 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     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

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Remarks     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 4 c.580G>A - r.(?) p.(Gly194Arg) Unknown g.124073037G>A - - - GSN_000003 GSN peptides identified in fibrillary deposits using LC-MS/MS PubMed: Sethi 2013, Journal: Sethi 2013 - Unknown ? - - 0 - DNA, protein SEQ - - amyloidosis, Finnish type (type V) - PubMed: Sethi 2013 - F ? United States white - 0 - - 1 Johan den Dunnen
+/+ 4 c.640G>A - r.(640g>a) p.(Asp214Asn) Both (homozygous) 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 - - - - - - - - - - - - - - - - - - -
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Parent #1 g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 not in 90 control chromosomes PubMed: Maury 1990, Journal: Maury 1990 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Maury 1990, Journal: Maury 1990 3-generation family, 7 affecteds, 1 unaffected carrier - - Finland - - 0 - - 8 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Parent #1 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 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Maury 1990, Journal: Maury 1990 5 unrelated patients - - Finland - - 0 - - 5 Johan den Dunnen
+/. 4 c.640G>A - - p.Asp214Asn Parent #1 g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 Asp214Asn change detected using protein sequencing PubMed: Maury 1990 rs121909715 Unknown ? - - 0 - protein MS - - GA-1 - - - - - - - - 0 - - 1 Katrin Hinderhofer
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Parent #1 g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 not in 26 control chromosomes PubMed: Levy 1990, Journal: Levy 1990 rs121909715 Unknown ? - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Levy 1990, Journal: Levy 1990 5 unrelated patients - - Finland - - 0 - - 5 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Parent #1 g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: Hiltunen 1991, PubMed: Paunio 1992, Journal: Paunio 1992 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Hiltunen 1991 6-generation family, 22 affecteds (13F, 9M) - - Finland - - 0 - - 22 Johan den Dunnen
+/. 4 c.640G>A - r.640g>a p.Asp214Asn Parent #1 g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: Hiltunen 1991, PubMed: Paunio 1992, Journal: Paunio 1992 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Hiltunen 1991 4-generation family, 8 affecteds (4F, 4M) - - Finland - - 0 - - 8 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Parent #1 g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: Hiltunen 1991, PubMed: Paunio 1992, Journal: Paunio 1992 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Hiltunen 1991 4-generation family, 15 affecteds (9F, 6M) - - Finland - - 0 - - 15 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Parent #1 g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992 6 families, 17 affecteds - - Finland - - 0 - - 17 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Parent #1 g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992 4-generation family, 4 affecteds (2F, 2M) - - United States Scotland;Ireland - 0 - - 4 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Parent #1 g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: Maury 1992 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Maury 1992 2-generation family, 5 affecteds, 3 heterozygous (2F, M) - - Finland - - 0 - - 3 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Both (homozygous) g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: Maury 1992 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Maury 1992 2-generation family, 5 affecteds, 2 homozygous females F - Finland - - 0 - - 2 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Parent #1 g.124073097G>A - 654G>A - GSN_000001 - PubMed: Gorevic 1991 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Gorevic 1991 2-generation family, father and daugther - - United States Ireland - 0 - - 22 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Unknown g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 performed extensive haplotype analysis PubMed: Taira 2012 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Taira 2012 4-generation family, 2 affecteds - - Japan - - 0 - - 22 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Unknown g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 performed extensive haplotype analysis PubMed: Taira 2012 rs121909715 Unknown ? - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Taira 2012 3-generation family, 1 affected - - Japan - - 0 - - 1 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Unknown g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 performed extensive haplotype analysis PubMed: Taira 2012 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Taira 2012 5-generation family, 4 affecteds - - Japan - - 0 - - 4 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Unknown g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 performed extensive haplotype analysis PubMed: Taira 2012 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Taira 2012 4-generation family, 17 affecteds - - Japan - - 0 - - 17 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Unknown g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 performed extensive haplotype analysis PubMed: Taira 2012 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Taira 2012 4-generation family, 3 affected - - Japan - - 0 - - 3 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Parent #1 g.124073097G>A - 654G>A (Asp187Asn) - GSN_000001 - PubMed: Gonzalez-Rodriguez 2014 rs121909715 Unknown ? - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Gonzalez-Rodriguez 2014 - - - Mexico - - 0 - - 1 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Parent #1 g.124073097G>A - G654A (Asp187Asn) - GSN_000001 - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992 - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 4 c.640G>A - r.(?) p.(Asp214Asn) Parent #1 g.124073097G>A - - - GSN_000001 - PubMed: Stewart 2000, Journal: Stewart 2000 rs121909715 Germline yes - - 0 - DNA SEQ, SSCA - - amyloidosis, Finnish type (type V) - PubMed: Stewart 2000, Journal: Stewart 2000 4-generation family, 6 affecteds (2F, 4M) - - United Kingdom (Great Britain) - - 0 - - 6 Johan den Dunnen
+/+ 4 c.640G>T - r.(640g>u) p.(Asp214Tyr) Both (homozygous) 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 - - - - - - - - - - - - - - - - - - -
+/. 4 c.640G>T - r.(?) p.(Asp214Tyr) Parent #1 g.124073097G>T - G654T (Asp187Tyr) - GSN_000002 - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992, OMIM:var0002 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: de la Chapelle 1992 family - - Denmark - - 0 - - 1 Johan den Dunnen
+/. 4 c.640G>T - r.(?) p.(Asp214Tyr) Parent #1 g.124073097G>T - G654T (Asp187Tyr) - GSN_000002 - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992, OMIM:var0002 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992 - - - Czech Republic - - 0 - - 1 Johan den Dunnen
+/. 4 c.640G>T - r.(?) p.(Asp214Tyr) Parent #1 g.124073097G>T - G654T - GSN_000002 - PubMed: Solari 2011, Journal: Solari 2011 rs121909715 Unknown yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Solari 2011, Journal: Solari 2011 2-generation family, 2 affected brothers - - Brazil - - 0 - - 2 Johan den Dunnen
+/. 4 c.640G>T - r.(?) p.(Asp214Tyr) Parent #1 g.124073097G>T - 654G>T - GSN_000002 - PubMed: Chastan 2006, Journal: Chastan 2006 rs121909715 Germline yes - - 0 - DNA SEQ - - amyloidosis, Finnish type (type V) - PubMed: Chastan 2006, Journal: Chastan 2006 4-generation family, 4 affecteds (2F, 2M) - - France - - 0 - - 4 Johan den Dunnen
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