Unique variants in the CSTB gene

Information The variants shown are described using the NM_000100.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Reported     

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     
-/. 1 3 c.*93A>G r.(?) p.(=) - benign g.45193990T>C g.43774109T>C - - CSTB_000024 - - - rs9446 Germline - - - - - Andreas Laner
+/+ 1 _1 c.-210_-199(30_125) r.? p.? - pathogenic g.45196349_45196360(30_125) - Dodecamer repeat expansion - CSTB_000004 1 more item 1 more item - - SUMMARY record - - - - - Anne Polvi
?/? 2 2, 2i c.? r.? p.? - VUS g.? - c.168+2_168+21delinsAA/ c.168+2_169+21delinsAA, exon1: c.133C>T, p.Q46X - CSTB_000023, CSTB_000024 Two different positions for one mutation have been given, clarification from authors have been asked, 1 more item PubMed: Canafoglia et al. 2012 - - SUMMARY record - - - - - Anne Polvi
-/. 1 1 c.-12G>A r.(?) p.(=) - benign g.45196162C>T g.43776281C>T - - CSTB_000026 - - - - Germline - - - - - Andreas Laner
+/., +?/+? 2 1 c.10G>C r.(10g>c), r.(?) p.(Gly4Arg) - likely pathogenic, pathogenic g.45196141C>G g.43776260C>G 426G>C - CSTB_000003 1 ULD patient: Moroccan PubMed: Lalioti al. 1997, OMIM:var0004, {dbSNP:rs74315443}, 1 more item - rs74315443 Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
?/. 1 - c.34G>A r.(?) p.(Ala12Thr) - VUS g.45196117C>T g.43776236C>T CSTB(NM_000100.3):c.34G>A (p.A12T) - CSTB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 1 c.43G>T r.(43g>u) p.(Glu15*) - VUS g.45196108C>A g.43776227C>A Rare variant in NCBI SNP database - CSTB_000014 Not reported as mutation - - rs11553836 SUMMARY record - unknown - - - Anne Polvi
+/+ 1 1 c.66G>A r.[66g>a,66g>a;66_67ins66+1_66+364] p.0 - pathogenic g.45196085C>T g.43776204C>T c.66G>A, r.[66g>a,65 66ins66+364pb] - CSTB_000010 1 more item PubMed: Pinto et al. 2012 - - SUMMARY record - - - - - Anne Polvi
+/+, +/. 2 1i c.67-1G>C r.spl?, r.[=, 67_168del] p.?, p.[=, Val23_Lys56del] - pathogenic g.45194638C>G, g.45194641C>G g.43774757C>G, g.43774760C>G CSTB(NM_000100.3):c.67-1G>C, 1 more item - CSTB_000001 VKGL data sharing initiative Nederland, 1 more item 1 more item - rs147484110 CLASSIFICATION record, SUMMARY record - 2/6503 NHLBI - - - Anne Polvi, VKGL-NL_Utrecht
-/., -?/., ?/., ?/? 4 2 c.121G>A r.(121g>a), r.(?) p.(Val41Met) - benign, likely benign, VUS g.45194586C>T g.43774705C>T CSTB(NM_000100.3):c.121G>A (p.V41M), Rare variant in NCBI SNP database - CSTB_000015 Not reported as mutation, PolyPhen-2: benign, VKGL data sharing initiative Nederland - - rs143153487 CLASSIFICATION record, Germline, SUMMARY record - 0.001 1000Gen - - - Anne Polvi, Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+, +/. 2 2 c.125C>A r.(?), r.125c>a p.(Ser42Ter), p.Ser42* - pathogenic g.45194582G>T g.43774701G>T CSTB(NM_000100.3):c.125C>A (p.S42*) - CSTB_000011 1 ULD patient: Turkish, VKGL data sharing initiative Nederland Erdinc et al. 2010 (http://www.jns.dergisi.org/text.php3?id=333) - - CLASSIFICATION record, SUMMARY record - - - - - Anne Polvi, VKGL-NL_Utrecht
?/? 1 2 c.139G>C r.(139g>c) p.(Val47Leu) - VUS g.45194568C>G g.43774687C>G Rare variant in NCBI SNP database - CSTB_000016 Not reported as mutation - - rs140799752 SUMMARY record - 0.000 1000Gen - - - Anne Polvi
-?/. 1 - c.147G>A r.(?) p.(Ala49=) - likely benign g.45194560C>T g.43774679C>T CSTB(NM_000100.3):c.147G>A (p.A49=) - CSTB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.149G>A r.149g>a p.Gly50Glu - pathogenic g.45194558C>T g.43774677C>T - - CSTB_000009 1 ULD patient: Finnish PubMed: Joensuu et al. 2007 - rs312262708 SUMMARY record - - - - - Anne Polvi
?/? 1 2 c.157T>C r.(157u>c) p.(Tyr53His) - VUS g.45194550A>G g.43774669A>G Rare variant in NCBI SNP database - CSTB_000017 Not reported as mutation - - rs200236513 SUMMARY record - 0.001 1000Gen - - - Anne Polvi
+?/+? 1 2 c.168G>A r.spl? p.? - likely pathogenic g.45194539C>T g.43774658C>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
+/+ 1 2i c.168+1_168+18del r.[67_168del, 168+1_168+18delins168+19_168+43] p.[Val23_Lys56del, Val57Glufs*28] - pathogenic g.45194523_45194540del g.43774642_43774659del c.168+1_18del - CSTB_000013 1 ULD patient: Italian PubMed: Joensuu et al. 2007 - rs312262707 SUMMARY record - - - - - Anne Polvi
?/. 1 - c.168+31C>G r.(=) p.(=) - VUS g.45194508G>C g.43774627G>C CSTB(NM_000100.3):c.168+31C>G - CSTB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 2i c.168+37G>A r.(?) p.(=) - benign g.45194502C>T g.43774621C>T - - CSTB_000025 - - - - Germline - - - - - Andreas Laner
+?/+? 1 2 c.169-2A>G r.spl? p.? - likely pathogenic g.45194213T>C g.43774332T>C 2352A>G - CSTB_000012 1 ULD patient: French PubMed: Lalioti al. 1997 - - SUMMARY record - - - - - Anne Polvi
?/. 1 - c.169G>T r.(?) p.(Val57Leu) - VUS g.45194211C>A - CSTB(NM_000100.3):c.169G>T (p.V57L) - CSTB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 1 3 c.181G>A r.(181g>a) p.(Asp61Asn) - VUS g.45194199C>T g.43774318C>T Variant in NCBI SNP database - CSTB_000018 Not reported as mutation - - rs199549401 SUMMARY record - unknown - - - Anne Polvi
?/? 1 3 c.184G>A r.(184g>a) p.(Glu62Lys) - VUS g.45194196C>T g.43774315C>T Rare variant in NCBI SNP database - CSTB_000019 Not reported as mutation - - rs147307021 SUMMARY record - 0.000 1000Gen - - - Anne Polvi
+/., +?/+?, ?/. 3 3 c.202C>T r.(202c>u), r.(?) p.(Arg68*), p.(Arg68Ter) - likely pathogenic, pathogenic, VUS g.45194178G>A g.43774297G>A CGA>TGA; stop codon at R68, CSTB(NM_000100.3):c.202C>T (p.R68*) - CSTB_000005 3 ULD patients: 2 Finnish and 1 Dutch, stopgain variant, VKGL data sharing initiative Nederland PubMed: Bobbili 2018, Journal: Bobbili 2018, 1 more item - rs74315442 CLASSIFICATION record, Germline, SUMMARY record - 1/194 cases RE - - - Anne Polvi, VKGL-NL_Rotterdam, Dheeraj Bobbili
?/? 1 3 c.208T>G r.(208u>g) p.(Phe70Val) - VUS g.45194172A>C g.43774291A>C Rare variant in NCBI SNPdb database Build 137 - CSTB_000020 Not reported as mutation - - rs200577790 SUMMARY record - 0.001 1000Gen - - - Anne Polvi
+/., +?/+?, ?/. 3 3 c.212A>C r.(212a>c), r.(?) p.(Gln71Pro) - likely pathogenic, pathogenic, VUS g.45194168T>G g.43774287T>G 308A>C Q71P, CSTB(NM_000100.3):c.212A>C (p.Q71P) - CSTB_000008 1 ULD patient: Dutch, VKGL data sharing initiative Nederland PubMed: de Haan et al. 2004, {dbSNP:rs121909346}, OMIM:var0006 - rs121909346 CLASSIFICATION record, SUMMARY record - - - - - Anne Polvi, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 2 3 c.218dup r.(?) p.(His75Serfs*2) - VUS g.45194162dup g.43774281dup - - CSTB_000027 - PubMed: O'Brien 2017 - - Germline yes - - - - Alan O'Brien
+/+ 1 3 c.218_219del r.218_219del p.Leu73Profs*3 - pathogenic g.45194165_45194166del g.43774284_43774285del 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
?/? 1 3 c.262A>C r.(262a>c) p.(Asn88His) - VUS g.45194118T>G g.43774237T>G Rare variant in NCBI SNP database - CSTB_000021 Not reported as mutation - - rs138149594 SUMMARY record - 0.001 1000Gen - - - Anne Polvi
?/? 1 3 c.269C>G r.(269c>g) p.(Ala90Gly) - VUS g.45194111G>C g.43774230G>C Common variant in NCBI SNP database - CSTB_000022 Not reported as mutation - - rs138337167 SUMMARY record - 1.000 1000Gen - - - Anne Polvi
-?/. 1 - c.*93A>G r.(=) p.(=) - likely benign g.45193990T>C g.43774109T>C CSTB(NM_000100.3):c.*93A>G - CSTB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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