Transcript #00001317

Transcript name transcript variant 1
Gene name AKAP4 (A kinase (PRKA) anchor protein 4)
Chromosome X
Transcript - NCBI ID NM_003886.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003877.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.8C>T likely benign r.(?) p.(Ala3Val)
?/. - c.175-4A>G VUS r.spl? p.?
-?/. - c.190A>T likely benign r.(?) p.(Ser64Cys)
?/. - c.809T>C VUS r.(?) p.(Ile270Thr)
-?/. - c.887G>A likely benign r.(?) p.(Gly296Asp)
-?/. - c.1849C>G likely benign r.(?) p.(Gln617Glu)
?/. - c.1888G>A VUS r.(?) p.(Val630Ile)
?/. - c.1898T>G VUS r.(?) p.(Leu633Arg)
-/. - c.1898T>G benign r.(?) p.(Leu633Arg)
?/. - c.2312A>C - r.(?) p.(Gln771Pro)
?/. - c.2410-408G>C - - p.(=)
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