All transcript variants in gene CSTB

Information The variants shown are described using the NM_000100.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

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 c.-210_-199(30_125) - r.? p.? g.45196349_45196360(30_125) - Dodecamer repeat expansion - CSTB_000004 Major mutation in ULD: >200 ULD patients with various ethnic origin; variant leads to reduced CSTB expression PubMed: Lafrenière et al.1997,PubMed: Virtaneva al. 1997,PubMed: Bespalova al. 1997b,PubMed: Larson et al. 1999,PubMed: Nokelainen et al. 2000,PubMed: Mazarib A et al. 2001 - SUMMARY record - - - - - Anne Polvi
?/? 2 c.? - r.? p.? g.? - exon1: c.133C>T, p.Q46X - CSTB_000023 1 ULD patient; C was not found at position c.133, found A instead (Mutalyzer 2.0.beta-26). At the protein level c.133 correcponds p.Ser45. Nucleotide change c.136C>T would result to p.Q46*. Discrepancy is not clarified by authors yet. PubMed: Canafoglia et al. 2012 - SUMMARY record - - - - - Anne Polvi
?/? 2i c.? - r.? p.? g.? - c.168+2_168+21delinsAA/ c.168+2_169+21delinsAA - CSTB_000023 Two different positions for one mutation have been given, clarification from authors have been asked PubMed: Canafoglia et al. 2012 - SUMMARY record - - - - - Anne Polvi
+?/+? 1 c.10G>C - r.(10g>c) p.(Gly4Arg) g.45196141C>G - 426G>C - CSTB_000003 1 ULD patient: Moroccan PubMed: Lalioti al. 1997, OMIM:var0004, dbSNP rs74315443 SUMMARY record - - - - - Anne Polvi
+/. - c.10G>C - r.(?) p.(Gly4Arg) g.45196141C>G - - - CSTB_000003 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - Germline yes - - 0 - Johan den Dunnen
?/? 1 c.43G>T - r.(43g>u) p.(Glu15*) g.45196108C>A - Rare variant in NCBI SNP database - CSTB_000014 Not reported as mutation dbSNP rs11553836 SUMMARY record - unknown - - - Anne Polvi
+/+ 1 c.66G>A - r.[66g>a,66g>a;66_67ins66+1_66+364] p.0 g.45196085C>T - c.66G>A, r.[66g>a,65 66ins66+364pb] - CSTB_000010 1 ULD patient: Portugese; variant causes loss of splice donor site and partial inclusion of intronic sequence from intron 1 PubMed: Pinto et al. 2012 - SUMMARY record - - - - - Anne Polvi
+/+ 1i c.67-1G>C - r.[=, 67_168del] p.[=, Val23_Lys56del] g.45194638C>G - G-to-C-transversion at the last nucleotide of intron 1; 1925G>C; 1924G>C - CSTB_000001 13 ULD patients: American and European; c.67-1G>C variant gives 2 transcript, one normal and one skipping exon 2 (102 bp shorter) PubMed: Pennacchio al. 1996, PubMed: Lalioti al. 1997, PubMed: Lafrenière al. 1997, PubMed: Bespalova al. 1997b rs147484110 SUMMARY record - 2/6503 NHLBI - - - Anne Polvi
?/? 2 c.121G>A - r.(121g>a) p.(Val41Met) g.45194586C>T - Rare variant in NCBI SNP database - CSTB_000015 Not reported as mutation dbSNP rs143153487 SUMMARY record - 0.001 1000Gen - - - Anne Polvi
+/+ 2 c.125C>A - r.125c>a p.Ser42* g.45194582G>T - - - CSTB_000011 1 ULD patient: Turkish Erdinc et al. 2010 (http://www.jns.dergisi.org/text.php3?id=333) - SUMMARY record - - - - - Anne Polvi
?/? 2 c.139G>C - r.(139g>c) p.(Val47Leu) g.45194568C>G - Rare variant in NCBI SNP database - CSTB_000016 Not reported as mutation dbSNP rs140799752 SUMMARY record - 0.000 1000Gen - - - Anne Polvi
+/+ 2 c.149G>A - r.149g>a p.Gly50Glu g.45194558C>T - - - CSTB_000009 1 ULD patient: Finnish PubMed: Joensuu et al. 2007 rs312262708 SUMMARY record - - - - - Anne Polvi
?/? 2 c.157T>C - r.(157u>c) p.(Tyr53His) g.45194550A>G - Rare variant in NCBI SNP database - CSTB_000017 Not reported as mutation dbSNP rs200236513 SUMMARY record - 0.001 1000Gen - - - Anne Polvi
+?/+? 2 c.168G>A - r.spl? p.? g.45194539C>T - 2027G>A transversion at the last nucleotide of exon 2 - CSTB_000007 1 ULD patient: Japanese PubMed: Kagitani-Shimono et al. 2002 - SUMMARY record - - - - - Anne Polvi
+/+ 2i c.168+1_168+18del - r.[67_168del, 168+1_168+18delins168+19_168+43] p.[Val23_Lys56del, Val57Glufs*28] g.45194521_45194538del - c.168+1_18del - CSTB_000013 1 ULD patient: Italian PubMed: Joensuu et al. 2007 rs312262707 SUMMARY record - - - - - Anne Polvi
+?/+? 2 c.169-2A>G - r.spl? p.? g.45194213T>C - 2352A>G - CSTB_000012 1 ULD patient: French PubMed: Lalioti al. 1997 - SUMMARY record - - - - - Anne Polvi
?/? 3 c.181G>A - r.(181g>a) p.(Asp61Asn) g.45194199C>T - Variant in NCBI SNP database - CSTB_000018 Not reported as mutation dbSNP rs199549401 SUMMARY record - unknown - - - Anne Polvi
?/? 3 c.184G>A - r.(184g>a) p.(Glu62Lys) g.45194196C>T - Rare variant in NCBI SNP database - CSTB_000019 Not reported as mutation dbSNP rs147307021 SUMMARY record - 0.000 1000Gen - - - Anne Polvi
+?/+? 3 c.202C>T - r.(202c>u) p.(Arg68*) g.45194178G>A - CGA>TGA; stop codon at R68 - CSTB_000005 3 ULD patients: 2 Finnish and 1 Dutch PubMed: Pennacchio al. 1996, PubMed: Lafrenière al. 1997, PubMed: de Haan et al. 2004 - SUMMARY record - - - - - Anne Polvi
./. - c.202C>T - r.(?) p.(Arg68*) g.45194178G>A - - - CSTB_000005 stopgain variant Bobbili, submitted rs74315442 Germline - 1/194 cases RE - 0 - Dheeraj Bobbili
?/? 3 c.208T>G - r.(208u>g) p.(Phe70Val) g.45194172A>C - Rare variant in NCBI SNPdb database Build 137 - CSTB_000020 Not reported as mutation dbSNP rs200577790 SUMMARY record - 0.001 1000Gen - - - Anne Polvi
+?/+? 3 c.212A>C - r.(212a>c) p.(Gln71Pro) g.45194168T>G - 308A>C Q71P - CSTB_000008 1 ULD patient: Dutch PubMed: de Haan et al. 2004, dbSNP, OMIM:var0006 rs121909346 SUMMARY record - - - - - Anne Polvi
+/+ 3 c.218_219delTC - r.218_219del p.Leu73Profs*3 g.45194161_45194162del - 2404deltaTC deletion; 2 bp deletion at bp 313-314; del2399TC - CSTB_000006 3 ULD patients: French, American PubMed: Bespalova al. 1997a, PubMed: Lafrenière al. 1997, PubMed: Lalioti al. 1997 - SUMMARY record - - - - - Anne Polvi
?/? 3 c.262A>C - r.(262a>c) p.(Asn88His) g.45194118T>G - Rare variant in NCBI SNP database - CSTB_000021 Not reported as mutation dbSNP rs138149594 SUMMARY record - 0.001 1000Gen - - - Anne Polvi
?/? 3 c.269C>G - r.(269c>g) p.(Ala90Gly) g.45194111G>C - Common variant in NCBI SNP database - CSTB_000022 Not reported as mutation dbSNP rs138337167 SUMMARY record - 1.000 1000Gen - - - Anne Polvi
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This database contains published pathogenic variants for ULD and additional missense and splice variants with unknown or no pathogenity.