Transcript #00004990

Transcript name centrosomal protein 89kDa
Gene name CEP89 (centrosomal protein 89kDa)
Chromosome 19
Transcript - NCBI ID NM_032816.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_116205.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

7 entries on 1 page. Showing entries 1 - 7.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-2319G>A likely benign r.(?) p.(=)
-?/. - c.-2254T>C likely benign r.(?) p.(=)
-?/. - c.-2254T>C likely benign r.(?) p.(=)
?/. - c.-1632C>T VUS r.(?) p.(=)
-?/. - c.412_413del likely benign r.(?) p.(Lys138Glyfs*16)
?/. - c.844A>T VUS r.(?) p.(Lys282*)
?/. - c.886G>A VUS r.(?) p.(Val296Ile)
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