Transcript #00001601

Transcript name transcript variant PAX8A
Gene name PAX8 (paired box 8)
Chromosome 2
Transcript - NCBI ID NM_003466.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003457.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.131C>T VUS r.(?) p.(Pro44Leu)
?/. - c.139A>C VUS r.(?) p.(Ile47Leu)
+/. - c.228del pathogenic r.(?) p.(Ile76Metfs*78)
?/. - c.230G>A VUS r.(?) p.(Gly77Glu)
+/. - c.398G>A pathogenic r.(?) p.(Arg133Gln)
-/. - c.479-6C>T benign r.(=) p.(=)
-/. - c.479-6C>T benign r.(=) p.(=)
?/. - c.777+652_777+653del - - p.(=)
-/. - c.885C>T benign r.(?) p.(=)
-/. - c.899-10C>T benign r.(=) p.(=)
?/. - c.920T>C VUS r.(?) p.(Ile307Thr)
?/. - c.932C>G VUS r.(?) p.(Thr311Ser)
?/. - c.943T>C VUS r.(?) p.(Ser315Pro)
-?/. - c.943T>C likely benign r.(?) p.(Ser315Pro)
-?/. - c.974C>T likely benign r.(?) p.(Ser325Phe)
-/. - c.985T>C benign r.(?) p.(Phe329Leu)
-/. - c.985T>C benign r.(?) p.(Phe329Leu)
-/. - c.1087+4C>T benign r.spl? p.?
-/. - c.1087+4C>T benign r.spl? p.?
?/. - c.1109C>T VUS r.(?) p.(Thr370Met)
-/. - c.1143C>T benign r.(?) p.(=)
-/. - c.1189+15G>A benign r.(=) p.(=)
-?/. - c.1189+15G>A likely benign r.(=) p.(=)
-/. - c.1317A>G benign r.(?) p.(=)
Legend