Transcript #00008736 (NM_000407.4, GP1BB gene)

Transcript name glycoprotein Ib (platelet), beta polypeptide
Gene name GP1BB (glycoprotein Ib (platelet), beta polypeptide)
Chromosome 22
Transcript - NCBI ID NM_000407.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000398.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

86 entries on 1 page. Showing entries 1 - 86.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.-871806_*2118575dup r.? p.?
+/. - c.-822054_*1752132del r.0? p.0?
+/. - c.-817530_*1752132del r.0? p.0?
+/. - c.-687930_*1752132del r.0? p.0?
-?/. - c.-3909G>A r.(?) p.(=)
?/. - c.-3368C>T r.(?) p.(=)
?/. - c.-1262del r.(?) p.(=)
+/. _1 c.-160C>G r.0? p.0?
+/. _1_2_ c.0 r.0 p.0
+/. _1_2_ c.0 r.0 p.0
+/. _1_2_ c.0 r.0 p.0
+/. _1_2_ c.0 r.0 p.0
+/. _1_2_ c.0 r.0 p.0
+/. _1_2_ c.0 r.0 p.0
+/. _1_2_ c.0 r.0 p.0
+/. 2 c.47T>C r.(?) p.(Leu16Pro)
+/. 2 c.53_65del r.(?) p.(Pro18Argfs*23)
+/. 2 c.53_65del r.(?) p.(Pro18Argfs*23)
+/. 2 c.53_65del r.(?) p.(Pro18Argfs*23)
?/. - c.65C>T r.(?) p.(Pro22Leu)
?/? 2 c.89G>A r.(?) p.(Cys30Tyr)
+/. 2 c.96C>A r.(?) p.(Cys32*)
+/. 2 c.96C>A r.(?) p.(Cys32*)
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14)
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14)
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14)
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14)
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14)
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14)
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14)
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14)
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14)
+/. 2 c.124_145del r.(?) p.(Arg42Cysfs*14)
+?/. - c.127G>T r.(?) p.(Gly43Trp)
+/. 2 c.127G>T r.(?) p.(Gly43Trp)
+/. 2 c.137G>A r.(?) p.(Trp46*)
+/. 2 c.138G>A r.(?) p.(Trp46*)
+/. 2 c.143C>A r.(?) p.(Ser48*)
+/. 2 c.143C>A r.(?) p.(Ser48*)
+/. 2 c.143C>A r.(?) p.(Ser48*)
+/. 2 c.161C>T r.(?) p.(Pro54Leu)
+/. 2 c.227A>G r.(?) p.(Asp76Gly)
+/. 2 c.233T>G r.(?) p.(Leu78Arg)
+/. 2 c.233T>G r.(?) p.(Leu78Arg)
?/. - c.238G>C r.(?) p.(Ala80Pro)
+/. 2 c.244C>T r.(?) p.(Arg82Cys)
+/. 2 c.265A>G r.(?) p.(Asn89Asp)
+/. 2 c.265A>G r.(?) p.(Asn89Asp)
+/. 2 c.265A>G r.(?) p.(Asn89Asp)
+/. 2 c.265A>G r.(?) p.(Asn89Asp)
+/. 2 c.265A>G r.(?) p.(Asn89Asp)
+/. 2 c.265A>G r.(?) p.(Asn89Asp)
+/. 2 c.265A>G r.(?) p.(Asn89Asp)
+/. 2 c.265A>G r.(?) p.(Asn89Asp)
+/. 2 c.266A>C r.(?) p.(Asn89Thr)
+?/. - c.267C>A r.(?) p.(Asn89Lys)
+/. 2 c.269C>G r.(?) p.(Pro90Arg)
+/. 2 c.281A>G r.(?) p.(Asp94Gly)
+/. 2 c.289C>T r.(?) p.(Leu97Phe)
+/. 2 c.290T>G r.(?) p.(Leu97Arg)
+/. 2 c.296C>G r.(?) p.(Pro99Arg)
+/. 2 c.315del r.(?) p.(Gly106Alafs*87)
+/. 2 c.338A>G r.(?) p.(Tyr113Cys)
+/. 2 c.338A>G r.(?) p.(Tyr113Cys)
+/. 2 c.338A>G r.(?) p.(Tyr113Cys)
+/. 2 c.361C>T r.(?) p.(Pro121Ser)
+/. 2 c.392A>C r.(?) p.(Tyr131Ser)
+/. 2 c.397G>C r.(?) p.(Ala133Pro)
-?/. - c.399C>T r.(?) p.(Ala133=)
+/. 2 c.410T>C r.(?) p.(Leu137Pro)
+?/. - c.410T>C r.(?) p.(Leu137Pro)
+/. 2 c.418_419dup r.(?) p.(Cys141Leufs*53)
+/. 2 c.423C>A r.(?) p.(Cys141*)
+/. 2 c.423C>A r.(?) p.(Cys141*)
-?/. - c.433C>T r.(?) p.(Pro145Ser)
+/. 2 c.439T>A r.(?) p.(Cys147Ser)
+/. 2 c.443G>A r.(?) p.(Trp148*)
+/. 2 c.443G>A r.(?) p.(Trp148*)
+/. 2 c.448del r.(?) p.(Ala150Argfs*43)
+?/. 2 c.462G>C r.(?) p.(Gln154His)
+/. 2 c.466dup r.(?) p.(Ala156Glyfs*153)
+?/. 2 c.470T>A r.(?) p.(Leu157Gln)
+/. 2 c.470T>C r.(?) p.(Leu157Pro)
+/. 2 c.470T>C r.(?) p.(Leu157Pro)
+/+ 2 c.472_473del r.(?) p.(Leu158Glyfs*150)
+/. 2 c.491dup r.(?) p.(His164Glnfs*145)
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