Transcript #00024017 (NM_001184880.1, PCDH19 gene)

Transcript name transcript variant 3
Gene name PCDH19 (protocadherin 19)
Chromosome X
Transcript - NCBI ID NM_001184880.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001171809.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 2015-02-20 17:58:52 +01:00 (CET)
Date last edited N/A


Variants

366 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_3i c.(?_-1)_(2616+1_2617-1)del r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del r.o p.0
+/. _1_6_ c.(?_-1)_(*1_?)del r.0 p.0
-?/. _1_6_ c.(?_-1)_(*1_?)del r.0 p.0
-?/. _1_6_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_6_ c.(?_-1)_(*1_?)del r.0 p.0
-?/. _1_6_ c.(?_-1)_(*1_?)dup r.(=) p.(=)
+/. 3i_6_ c.2617-6811_*4633{0} r.? p.?
+?/. - c.3G>A r.? p.(Met1?)
-/. 1 c.6G>A r.(=) p.(Glu2Glu)
-/. 1 c.6G>A r.(=) p.(=)
-/. - c.6G>A r.(?) p.(Glu2=)
-?/. - c.31C>A r.(?) p.(Leu11Met)
+/. - c.47G>A r.(?) p.(Trp16Ter)
+/. 1 c.64del r.(?) p.(Leu22Serfs*8)
+/. 1 c.74T>C r.(?) p.(Leu25Pro)
+/. 1 c.78del r.(?) p.(Lys26Asnfs*4)
-/. - c.81C>T r.(?) p.(Tyr27=)
+/. 1 c.83C>A r.(?) p.(Ser28*)
+?/. 1 c.90A>G r.(=) p.(Glu30=)
+?/. 1 c.94G>T r.(?) p.(Glu32Ter)
+/. 1 c.134_135del r.(?) p.(Asp45Glyfs*43)
+/. 1 c.142G>T r.(?) p.(Glu48*)
+/. 1 c.142G>T r.(?) p.(Glu48*)
?/. - c.154G>A r.(?) p.(Ala52Thr)
?/. - c.154G>A r.(?) p.(Ala52Thr)
+/. 1 c.158dup r.(?) p.(Asp54Glyfs*35)
?/. - c.172G>T r.(?) p.(Ala58Ser)
+/. 1 c.183dup r.(?) p.(Arg62Serfs*27)
?/. - c.194C>T r.(?) p.(Ser65Phe)
?/. - c.197A>G r.(?) p.(Asn66Ser)
+/. - c.202_203insTC r.(?) p.(Ala68ValfsTer5)
+/. 1 c.215T>G r.(?) p.(Val72Gly)
+/. 1 c.241dup r.(?) p.(Leu81Profs*8)
+/. 1 c.242T>G r.(?) p.(Leu81Arg)
+/. 1 c.253C>T r.(?) p.(Gln85*)
+/. 1 c.253C>T r.(?) p.(Gln85*)
+/. 1 c.253C>T r.(?) p.(Gln85*)
+/. 1 c.262G>T r.(?) p.(Asp88Tyr)
+?/. - c.263A>C r.(?) p.(Asp88Ala)
?/. - c.265C>T r.(?) p.(Arg89Cys)
?/. - c.301A>G r.(?) p.(Ile101Val)
+/. 1 c.317T>A r.(?) p.(Met106Lys)
-?/. - c.321C>T r.(?) p.(Ser107=)
+/. 1 c.339C>A r.(?) p.(Cys113*)
+/. 1 c.339dup r.(?) p.(Val114Argfs*112)
+?/. 1 c.339_355delinsTCGT r.(?) p.(Val114ArgfsTer5)
+/. 1 c.352G>T r.(?) p.(Glu118*)
+/. 1 c.357del r.(?) p.(Lys120Argfs*3)
+/. 1 c.357del r.(?) p.(Lys120Argfs*3)
+/. 1 c.361G>A r.(?) p.(Asp121Asn)
+?/. - c.361G>A r.(?) p.(Asp121Asn)
+/. 1 c.361G>A r.(?) p.(Asp121Asn)
+/. - c.369C>A r.(?) p.(Asn123Lys)
+/. 1 c.370G>A r.(?) p.(Asp124Asn)
?/. - c.380C>T r.(?) p.(Pro127Leu)
-/. 1 c.402C>A r.(=) p.(Ile134=)
-/. 1 c.402C>A r.(=) p.(Ile134=)
-/. 1 c.402C>A r.(=) p.(Ile134=)
+/. 1 c.415_423dup r.(?) p.(Ser139_Ala141dup)
+/. - c.416C>A r.(?) p.(Ser139Ter)
+/. 1 c.424del r.(?) p.(Ala142Profs*70)
+/. 1 c.437C>G r.(?) p.(Thr146Arg)
+/. 1 c.445C>T r.(?) p.(Pro149Ser)
+/. 1 c.457G>A r.(?) p.(Ala153Thr)
+/. 1 c.462C>A r.(?) p.(Tyr154*)
+/. - c.462C>G r.(?) p.(Tyr154Ter)
+/. - c.462C>G r.(?) p.(Tyr154Ter)
+?/. - c.469G>A r.(?) p.(Asp157Asn)
+/. 1 c.471C>A r.(?) p.(Asp157Glu)
+/. 1 c.471C>G r.(?) p.(Asp157Glu)
+?/. 1 c.488T>G r.(?) p.(Val163Gly)
+/. - c.496del r.(?) p.(Tyr166Thrfs*46)
+/. 1 c.497dup r.(?) p.(Tyr166*)
+/. 1 c.506del r.(?) p.(Thr169Serfs*43)
-?/. - c.513C>T r.(?) p.(Asn171=)
+/. 1 c.514dup r.(?) p.(Glu172Glyfs*54)
-/. 1 c.531G>A r.(=) p.(Glu177Glu)
?/. - c.554C>T r.(?) p.(Ser185Phe)
+/. 1 c.569T>G r.(?) p.(Leu190Arg)
+/. 1 c.571G>C r.(?) p.(Val191Leu)
+/. 1 c.595G>C r.(?) p.(Glu199Gln)
+?/. 1 c.608A>C r.(?) p.(His203Pro)
+?/. - c.610T>G r.(?) p.(Tyr204Asp)
+/. 1 c.617T>A r.(?) p.(Phe206Tyr)
+?/. 1 c.617T>G r.(?) p.(Phe206Cys)
-/. 1 c.655C>T r.(=) p.(=)
-?/. - c.655C>T r.(?) p.(Leu219=)
?/. - c.676A>G r.(?) p.(Ile226Val)
-?/. - c.684G>A r.(?) p.(=)
+/. - c.695A>G r.(?) p.(Asn232Ser)
+/. 1 c.695A>G r.(?) p.(Asn232Ser)
+/. - c.695A>G r.(?) p.(Asn232Ser)
+/. 1 c.695A>G r.(?) p.(Asn232Ser)
+/. 1 c.697_700delinsTAAC r.(?) p.(Asp233*)
+/. 1 c.701A>G r.(?) p.(Asn234Ser)
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