Unique variants in gene GSN

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

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     
+/. 1 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 ? - - - - Johan den Dunnen
+/., +/+ 21 4 c.640G>A - r.(?), -, r.640g>a, r.(640g>a) p.(Asp214Asn), p.Asp214Asn g.124073097G>A - 654G>A (Asp187Asn), 654G>A, G654A (Asp187Asn), 654G>A, D187N - GSN_000001 not in 90 control chromosomes, Asp214Asn change detected using protein sequencing, 4 more items PubMed: Maury 1990, Journal: Maury 1990, PubMed: Maury 1990, PubMed: Levy 1990, Journal: Levy 1990, 9 more items rs121909715 Germline, Unknown, SUMMARY record yes, ? - - - - Johan den Dunnen, Anne Polvi
+/., +/+ 5 4 c.640G>T - r.(?), r.(640g>u) p.(Asp214Tyr) g.124073097G>T - G654T (Asp187Tyr), G654T, 654G>T, 654G>T, D187Y - GSN_000002 1 Danish, 1 Czech, 1 Brazilian and 1 French FAF family (all hom) PubMed: de la Chapelle 1992, Journal: de la Chapelle 1992, OMIM:var0002, 3 more items rs121909715 Germline, Unknown, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
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