Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Asp3230ValfsTer34 (p.D3230Vfs*34)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Ser3187LeufsTer33 (p.S3187Lfs*33) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Thr1960LysfsTer9 (p.T1960Kfs*9) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Val1776ProfsTer3 (p.V1776Pfs*3) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Tyr1578PhefsTer14 (p.Y1578Ffs*14) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Gln1256ArgfsTer47 (p.Q1256Rfs*47) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Asp943HisfsTer15 (p.D943Hfs*15) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Thr311LeufsTer8 (p.T311Lfs*8) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Met238SerfsTer7 (p.M238Sfs*7) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ser118IlefsTer35 (p.S118Ifs*35) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Asp3230ValfsTer34 (p.D3230Vfs*34) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ser3187LeufsTer33 (p.S3187Lfs*33) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Thr1960LysfsTer9 (p.T1960Kfs*9) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Val1776ProfsTer3 (p.V1776Pfs*3) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Tyr1578PhefsTer14 (p.Y1578Ffs*14) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Gln1256ArgfsTer47 (p.Q1256Rfs*47) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Asp943HisfsTer15 (p.D943Hfs*15) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Thr311LeufsTer8 (p.T311Lfs*8) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Met238SerfsTer7 (p.M238Sfs*7) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ser118IlefsTer35 (p.S118Ifs*35) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Cys1472LeufsTer36 (p.C1472Lfs*36) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ala1254GlyfsTer49 (p.A1254Gfs*49) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Cys1472LeufsTer36 (p.C1472Lfs*36) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ala1254GlyfsTer49 (p.A1254Gfs*49) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg3842Ter (p.R3842*) ( ENST00000371117.8 )
PKHD1 p.Ile3555Lys (p.I3555K) ( ENST00000371117.8 )
PKHD1 p.Ile3553Thr (p.I3553T) ( ENST00000371117.8 )
PKHD1 p.Arg3482Cys (p.R3482C) ( ENST00000371117.8 )
PKHD1 p.Val3471Gly (p.V3471G) ( ENST00000371117.8 )
PKHD1 p.Gln3407Ter (p.Q3407*) ( ENST00000371117.8 )
PKHD1 p.Leu3344Ter (p.L3344*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Leu3344Ser (p.L3344S) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg3240Leu (p.R3240L) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg3107Ter (p.R3107*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ser3018Phe (p.S3018F) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg2942Ter (p.R2942*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Cys2803Tyr (p.C2803Y) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Cys2803Arg (p.C2803R) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 c.8303-1G>A ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg2671Ter (p.R2671*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ser2639Ter (p.S2639*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Trp2398Ter (p.W2398*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ile2331Thr (p.I2331T) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ile2331Lys (p.I2331K) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Gln2167Lys (p.Q2167K) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 c.5236+1G>A ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Val1741Met (p.V1741M) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ser1664Phe (p.S1664F) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg1624Trp (p.R1624W) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Gly1123Ser (p.G1123S) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Gly952Arg (p.G952R) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Trp937Ter (p.W937*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg909Ter (p.R909*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Gln818Ter (p.Q818*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 c.2407+1G>A ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg781Ter (p.R781*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg760His (p.R760H) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Met627Lys (p.M627K) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Tyr610Ter (p.Y610*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 c.1694-1G>A ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 c.1602+1G>A ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg496Ter (p.R496*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg496Gly (p.R496G) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg494Ter (p.R494*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Tyr486Ter (p.Y486*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg328Ter (p.R328*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Tyr255Ter (p.Y255*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ser228Gly (p.S228G) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 c.391-1G>C ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg124Ter (p.R124*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Thr36Met (p.T36M) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Glu29Ter (p.E29*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg3842Ter (p.R3842*) ( ENST00000371117.8 )
PKHD1 p.Ile3555Lys (p.I3555K) ( ENST00000371117.8 )
PKHD1 p.Ile3553Thr (p.I3553T) ( ENST00000371117.8 )
PKHD1 p.Arg3482Cys (p.R3482C) ( ENST00000371117.8 )
PKHD1 p.Val3471Gly (p.V3471G) ( ENST00000371117.8 )
PKHD1 p.Gln3407Ter (p.Q3407*) ( ENST00000371117.8 )
PKHD1 p.Leu3344Ter (p.L3344*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Leu3344Ser (p.L3344S) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg3240Leu (p.R3240L) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg3107Ter (p.R3107*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ser3018Phe (p.S3018F) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg2942Ter (p.R2942*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Cys2803Tyr (p.C2803Y) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Cys2803Arg (p.C2803R) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 c.8303-1G>A ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg2671Ter (p.R2671*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ser2639Ter (p.S2639*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Trp2398Ter (p.W2398*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ile2331Thr (p.I2331T) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ile2331Lys (p.I2331K) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Gln2167Lys (p.Q2167K) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 c.5236+1G>A ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Val1741Met (p.V1741M) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ser1664Phe (p.S1664F) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg1624Trp (p.R1624W) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Gly1123Ser (p.G1123S) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Gly952Arg (p.G952R) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Trp937Ter (p.W937*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg909Ter (p.R909*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Gln818Ter (p.Q818*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 c.2407+1G>A ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg781Ter (p.R781*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg760His (p.R760H) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Met627Lys (p.M627K) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Tyr610Ter (p.Y610*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 c.1694-1G>A ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 c.1602+1G>A ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg496Ter (p.R496*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg496Gly (p.R496G) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg494Ter (p.R494*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Tyr486Ter (p.Y486*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg328Ter (p.R328*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Tyr255Ter (p.Y255*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Ser228Gly (p.S228G) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 c.391-1G>C ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Arg124Ter (p.R124*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Thr36Met (p.T36M) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Glu29Ter (p.E29*) ( ENST00000340994.4, ENST00000371117.8 )
PKHD1 p.Leu3486IlefsTer17 (p.L3486Ifs*17)
PKHD1 p.Met2574IlefsTer10 (p.M2574Ifs*10)
PKHD1 p.Leu1966HisfsTer4 (p.L1966Hfs*4)
PKHD1 p.Ile1178TyrfsTer12 (p.I1178Yfs*12)
PKHD1 p.Leu3486IlefsTer17 (p.L3486Ifs*17)
PKHD1 p.Met2574IlefsTer10 (p.M2574Ifs*10)
PKHD1 p.Leu1966HisfsTer4 (p.L1966Hfs*4)
PKHD1 p.Ile1178TyrfsTer12 (p.I1178Yfs*12) - Associated Disease
- autosomal recessive polycystic kidney disease
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.672904055651701
- Year of publication
- NA
Drugs