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

8 entries on 1 page. Showing entries 1 - 8.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. - c.398G>A pathogenic r.(?) p.(Arg133Gln)
-/. - c.479-6C>T benign r.(=) p.(=)
?/. - c.777+652_777+653del - - p.(=)
-/. - c.899-10C>T benign r.(=) p.(=)
-/. - c.985T>C benign r.(?) p.(Phe329Leu)
-/. - c.985T>C benign r.(?) p.(Phe329Leu)
-/. - c.1087+4C>T benign r.spl? p.?
-/. - c.1317A>G benign r.(=) p.(=)
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