Transcript #00002416

Transcript name ALX homeobox 3
Gene name ALX3 (ALX homeobox 3)
Chromosome 1
Transcript - NCBI ID NM_006492.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_006483.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

14 entries on 1 page. Showing entries 1 - 14.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.155C>T likely benign r.(?) p.(Pro52Leu)
-?/. - c.160T>A likely benign r.(?) p.(Cys54Ser)
?/. - c.161_182del VUS r.(?) p.(Cys54Serfs*132)
?/. - c.176C>T VUS r.(?) p.(Pro59Leu)
+/. - c.228del pathogenic r.(?) p.(Gly78Alafs*115)
?/. - c.265G>A VUS r.(?) p.(Gly89Ser)
-/. - c.277+49_277+51del benign r.(=) p.(=)
-?/. - c.278-6T>C likely benign r.(=) p.(=)
?/. - c.283_285del VUS r.(?) p.(Glu95del)
-?/. - c.414G>A likely benign r.(?) p.(=)
+/. - c.578_581del pathogenic r.(?) p.(Thr193Argfs*137)
?/. - c.637C>T VUS r.(?) p.(Arg213Cys)
+/. - c.723+1G>C pathogenic r.spl? p.?
?/. - c.959A>G VUS r.(?) p.(Tyr320Cys)
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