Transcript #00000265

Transcript name cystatin B (stefin B)
Gene name CSTB (cystatin B (stefin B))
Chromosome 21
Transcript - NCBI ID NM_000100.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000091.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
+/+ _1 c.-210_-199(30_125) - r.? p.?
?/? 2 c.? - r.? p.?
?/? 2i c.? - r.? p.?
+?/+? 1 c.10G>C - r.(10g>c) p.(Gly4Arg)
+/. - c.10G>C - r.(?) p.(Gly4Arg)
?/? 1 c.43G>T - r.(43g>u) p.(Glu15*)
+/+ 1 c.66G>A - r.[66g>a,66g>a;66_67ins66+1_66+364] p.0
+/+ 1i c.67-1G>C - r.[=, 67_168del] p.[=, Val23_Lys56del]
?/? 2 c.121G>A - r.(121g>a) p.(Val41Met)
+/+ 2 c.125C>A - r.125c>a p.Ser42*
?/? 2 c.139G>C - r.(139g>c) p.(Val47Leu)
+/+ 2 c.149G>A - r.149g>a p.Gly50Glu
?/? 2 c.157T>C - r.(157u>c) p.(Tyr53His)
+?/+? 2 c.168G>A - r.spl? p.?
+/+ 2i c.168+1_168+18del - r.[67_168del, 168+1_168+18delins168+19_168+43] p.[Val23_Lys56del, Val57Glufs*28]
+?/+? 2 c.169-2A>G - r.spl? p.?
?/? 3 c.181G>A - r.(181g>a) p.(Asp61Asn)
?/? 3 c.184G>A - r.(184g>a) p.(Glu62Lys)
+?/+? 3 c.202C>T - r.(202c>u) p.(Arg68*)
./. - c.202C>T - r.(?) p.(Arg68*)
?/? 3 c.208T>G - r.(208u>g) p.(Phe70Val)
+?/+? 3 c.212A>C - r.(212a>c) p.(Gln71Pro)
+/+ 3 c.218_219delTC - r.218_219del p.Leu73Profs*3
?/? 3 c.262A>C - r.(262a>c) p.(Asn88His)
?/? 3 c.269C>G - r.(269c>g) p.(Ala90Gly)
Legend