Transcript #00000476

Transcript name NFKB activating protein
Gene name NKAP (NFKB activating protein)
Chromosome X
Transcript - NCBI ID NM_024528.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_078804.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

25 entries on 1 page. Showing entries 1 - 25.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.386+170A>G likely benign - p.(=)
?/. - c.386+170A>G likely benign - p.(=)
?/. - c.467+890G>A likely benign - p.(=)
?/. - c.467+890G>A likely benign - p.(=)
?/. - c.538+8T>A likely benign - p.(=)
?/. - c.538+8T>A likely benign - p.(=)
?/. - c.539-17A>T likely benign - p.(=)
?/. - c.539-17A>T likely benign - p.(=)
?/. 4 c.603_605del likely benign r.(?) p.(Ser202del)
-?/. - c.673+8C>T likely benign r.(=) p.(=)
?/. - c.737+147G>A likely benign - p.(=)
?/. - c.737+147G>A likely benign - p.(=)
?/. - c.923+6C>T likely benign - p.(=)
?/. - c.923+6C>T likely benign - p.(=)
?/. - c.924-318C>G likely benign - p.(=)
+/. - c.988C>T pathogenic (recessive) r.(?) p.(Arg330Cys)
+/. - c.989G>A pathogenic (recessive) r.(?) p.(Arg330His)
+/. - c.998G>A pathogenic (recessive) r.(?) p.(Arg333Gln)
+/. - c.998G>A pathogenic (recessive) r.(?) p.(Arg333Gln)
+/. - c.998G>A pathogenic (recessive) r.(?) p.(Arg333Gln)
+/. - c.998G>A pathogenic (recessive) r.(?) p.(Arg333Gln)
+/. - c.998G>A pathogenic (recessive) r.(?) p.(Arg333Gln)
+/. - c.998G>A pathogenic (recessive) r.(?) p.(Arg333Gln)
+/. - c.1010T>C pathogenic (recessive) r.(?) p.(Ile337Thr)
+/. - c.1082G>A pathogenic (recessive) r.(?) p.(Arg361Gln)
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