Unique variants in gene GSN

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

14 entries on 1 page. Showing entries 1 - 14.
Legend  

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     

ClinVar ID     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.144+43_144+49dup - - - 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 - - - - - VKGL-NL_Leiden
./. 2 - c.144+122G>T - - - g.124062405G>T - GSN:c.100-1836G>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 - - - - - VKGL-NL_Leiden
./. 1 - c.456C>T - - - 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 - - - - - VKGL-NL_Leiden
+/. 1 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 ? - - - - -
+/., +/+ 21 4 c.640G>A - r.(?), -, r.640g>a, r.(640g>a) p.(Asp214Asn), p.Asp214Asn g.124073097G>A g.121310819G>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, ? - - - - Anne Polvi
+/., +/+ 5 4 c.640G>T - r.(?), r.(640g>u) p.(Asp214Tyr) g.124073097G>T g.121310819G>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 - - - - Anne Polvi
./. 1 - c.666+19T>C - - - 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 - - - - - VKGL-NL_Leiden
./. 1 - c.691A>G - - - 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 - - - - - VKGL-NL_Leiden
./. 1 - c.1039+19G>T - - - 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 - - - - - VKGL-NL_Leiden
./. 2 - c.1392A>G - - - 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 - - - - - VKGL-NL_Leiden
./. 1 - c.1441C>T - - - g.124083642C>T - GSN:c.1396C>T (R466C) - GSN_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.1462C>A - - - 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 - - - - - VKGL-NL_Leiden
./. 1 - c.1484G>T - - - g.124086837G>T - GSN:c.1439G>T (G480V) - GSN_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 2 - c.1688C>G - - - 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 - - - - - VKGL-NL_Leiden
Legend