Transcript #00016232

Transcript name polycystic kidney disease 1 like 1
Gene name PKD1L1 (polycystic kidney disease 1 like 1)
Chromosome 7
Transcript - NCBI ID NM_138295.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_612152.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

81 entries on 1 page. Showing entries 1 - 81.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.7G>A likely benign r.(?) p.(Glu3Lys)
-?/. - c.299C>T likely benign r.(?) p.(Thr100Ile)
-?/. - c.399-6A>G likely benign r.(=) p.(=)
?/. - c.519+5G>A VUS r.spl? p.?
-?/. - c.731C>T likely benign r.(?) p.(Pro244Leu)
-?/. - c.737+5G>A likely benign r.spl? p.?
?/. - c.933T>C VUS r.(?) p.(=)
-?/. - c.1031C>T likely benign r.(?) p.(Ala344Val)
-?/. - c.1031C>T likely benign r.(?) p.(Ala344Val)
-/. - c.1208T>C benign r.(?) p.(Leu403Pro)
-/. - c.1392G>A benign r.(?) p.(=)
?/. - c.1406C>T VUS r.(?) p.(Thr469Ile)
-?/. - c.1696C>T likely benign r.(?) p.(Arg566Cys)
-/. - c.2220C>T benign r.(?) p.(=)
?/. - c.2276A>T VUS r.(?) p.(Gln759Leu)
-?/. - c.2454-18C>G likely benign r.(=) p.(=)
-?/. - c.2502C>T likely benign r.(?) p.(=)
-?/. - c.2675+4C>T likely benign r.spl? p.?
-/. - c.2675+4C>T benign r.spl? p.?
?/. - c.2780T>C VUS r.(?) p.(Leu927Pro)
-?/. - c.2836+8G>T likely benign r.(=) p.(=)
-/. - c.2880C>T benign r.(?) p.(=)
-?/. - c.2881G>A likely benign r.(?) p.(Gly961Ser)
-?/. - c.2954C>T likely benign r.(?) p.(Thr985Ile)
-?/. - c.2979A>T likely benign r.(?) p.(=)
-?/. - c.2979A>T likely benign r.(?) p.(=)
-/. - c.2982C>T benign r.(?) p.(=)
-/. - c.3004A>C benign r.(?) p.(Thr1002Pro)
?/. - c.3157C>T VUS r.(?) p.(Arg1053Cys)
-/. - c.3228C>T benign r.(?) p.(=)
-?/. - c.3377T>G likely benign r.(?) p.(Val1126Gly)
+?/. - c.3412C>T likely pathogenic r.(?) p.(Arg1138*)
-?/. - c.3622G>A likely benign r.(?) p.(Ala1208Thr)
-/. - c.3624A>G benign r.(?) p.(=)
-?/. - c.3630C>A likely benign r.(?) p.(=)
-?/. - c.3687C>T likely benign r.(?) p.(=)
-?/. - c.3739T>G likely benign r.(?) p.(Tyr1247Asp)
-?/. - c.3845T>A likely benign r.(?) p.(Val1282Glu)
-?/. - c.3845T>A likely benign r.(?) p.(Val1282Glu)
-?/. - c.3994C>T likely benign r.(?) p.(Arg1332Cys)
?/. - c.4940T>C VUS r.(?) p.(Ile1647Thr)
-?/. - c.5108G>A likely benign r.(?) p.(Arg1703His)
-?/. - c.5167G>A likely benign r.(?) p.(Ala1723Thr)
-?/. - c.5196G>A likely benign r.(?) p.(=)
-?/. - c.5212G>A likely benign r.(?) p.(Val1738Met)
?/. - c.5366A>G VUS r.(?) p.(Glu1789Gly)
?/. - c.5381G>T VUS r.(?) p.(Gly1794Val)
?/. - c.5397G>A VUS r.(?) p.(=)
?/. - c.5464G>A VUS r.(?) p.(Gly1822Ser)
-/. - c.5467G>A benign r.(?) p.(Asp1823Asn)
-?/. - c.5467G>A likely benign r.(?) p.(Asp1823Asn)
-?/. - c.5467G>A likely benign r.(?) p.(Asp1823Asn)
?/. - c.5663G>A VUS r.(?) p.(Gly1888Glu)
-?/. - c.5703C>T likely benign r.(?) p.(=)
-?/. - c.5728C>T likely benign r.(?) p.(Arg1910Trp)
-?/. - c.5728C>T likely benign r.(?) p.(Arg1910Trp)
?/. - c.5792_5793delinsCAT VUS r.(?) p.(Glu1931Alafs*103)
?/. - c.5822C>T VUS r.(?) p.(Ser1941Leu)
-?/. - c.5955C>T likely benign r.(?) p.(=)
-?/. - c.6113C>G likely benign r.(?) p.(Thr2038Ser)
-?/. - c.6225G>A likely benign r.(?) p.(=)
?/. - c.6337+1G>A VUS r.spl? p.?
-?/. - c.6736-3C>T likely benign r.spl? p.?
-?/. - c.6736-3C>T likely benign r.spl? p.?
-?/. - c.6762C>G likely benign r.(?) p.(=)
-?/. - c.6949C>T likely benign r.(?) p.(Arg2317Trp)
-/. - c.6949C>T benign r.(?) p.(Arg2317Trp)
-/. - c.7072C>T benign r.(?) p.(Arg2358Cys)
-/. - c.7080G>A benign r.(?) p.(=)
?/. - c.7124G>A VUS r.(?) p.(Gly2375Asp)
?/. - c.7135A>G VUS r.(?) p.(Ile2379Val)
?/. - c.7721C>A VUS r.(?) p.(Ala2574Glu)
-?/. - c.7787G>T likely benign r.(?) p.(Arg2596Leu)
-?/. - c.7795A>G likely benign r.(?) p.(Met2599Val)
-?/. - c.7806C>G likely benign r.(?) p.(=)
-?/. - c.7827+6C>T likely benign r.(=) p.(=)
-?/. - c.7987G>A likely benign r.(?) p.(Ala2663Thr)
-?/. - c.8104C>T likely benign r.(?) p.(Leu2702Phe)
-?/. - c.8132G>A likely benign r.(?) p.(Arg2711Gln)
-?/. - c.8133G>T likely benign r.(?) p.(=)
?/. - c.8135C>T VUS r.(?) p.(Ala2712Val)
Legend