Transcript #00024160

Transcript name transcript variant 1
Gene name PRKAR1A (protein kinase, cAMP-dependent, regulatory, type I, alpha)
Chromosome 17
Transcript - NCBI ID NM_002734.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_002725.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

45 entries on 1 page. Showing entries 1 - 45.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
-/. - c.87G>A benign r.(=) p.(=) - - -
-?/. - c.221G>A likely benign r.(?) p.(Arg74His) - - -
-/. - c.349-5dup benign r.spl? p.? - - -
-/. - c.349-5dup benign r.spl? p.? - - -
-/. - c.440+15T>C benign r.(=) p.(=) - - -
+/. 5 c.491_492del - r.(491_492del) p.(Val164Aspfs*5) - - -
+/. - c.503-2A>T - r.spl p.? - 0.000 -
+?/. 6 c.507_509delTGA - r.(?) p.(Asp169del) - - -
-/. - c.550-18A>G benign r.(=) p.(=) - - -
+?/. 7 c.622G>A - r.(?) p.(Gly208Arg) - - -
+?/+? 7 c.625A>G - r.(?) p.(Thr209Ala) - - -
+?/+? 7 c.637G>A - r.(637g>a) p.(Ala213Thr) - - -
-?/-? 7 c.679G>A - r.(679g>a) p.(Asp227Asn) - - -
+?/+? 8 c.715A>G - r.(715a>g) p.(Thr239Ala) - - -
+?/+? 9 c.806A>G - r.(806a>g) p.(Asp269Gly) - - -
+?/+? 9 c.854A>G - r.(854a>g) p.(Gln285Arg) - - -
+?/-? 9 c.866G>A - r.(?) p.(Gly289Glu) - 0.000 -
+?/+? 9 c.866G>A - r.(866g>a) p.(Gly289Glu) - - -
+?/+? 9 c.879C>G - r.(879c>g) p.(Phe293Leu) - - -
+?/+? 11 c.980T>C - r.(980u>c) p.(Ile327Thr) - - -
+?/+? 11 c.983C>T - r.(?) p.(Ala328Val) - - -
+?/+? 11 c.1003C>T - r.(1003c>u) p.(Arg335Cys) - - -
+?/+? 11 c.1004G>C - r.(1004g>c) p.(Arg335Pro) - - -
+?/+? 11 c.1004G>T - r.(1004g>u) p.(Arg335Leu) - - -
+?/+? 11 c.1102C>T - r.(1102c>u) p.(Arg368*) - - -
+?/+? 11 c.1102C>T - r.(1102c>u) p.(Arg368*) - - -
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - -
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - -
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - -
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - -
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - -
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - -
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - -
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - -
+/. 11 c.1102C>T - r.(?) p.(Arg368*) - - -
+/+ 11 c.1102C>T - r.(?) p.(Arg368*) - 0.000 -
+?/+? 11 c.1102C>T - r.(1102c>u) p.(Arg368*) - - -
+?/+? 11 c.1102C>T - r.(1102c>u) p.(Arg368*) - - -
+/. 11 c.1111C>T - r.(?) p.(Gln371*) - - -
+/. 11 c.1111C>T - r.(?) p.(Gln371*) - - -
+?/+? 11 c.1114C>T - r.(1114c>u) p.(Gln372*) - - -
+?/+? 11 c.1117T>C - r.(1117u>c) p.(Tyr373His) - - -
+?/+? 11 c.1118A>G - r.(1118a>g) p.(Tyr373Cys) - - -
+/. - c.1141_1145del pathogenic r.(?) p.(Val381Lysfs*44) - - -
-/. - c.*7065A>G benign r.(=) p.(=) - - -
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