Transcript #00025255

Transcript name transcript variant 1
Gene name PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
Chromosome X
Transcript - NCBI ID NM_002764.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002755.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

38 entries on 1 page. Showing entries 1 - 38.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 2 c.129A>C - r.(?) p.(Glu43Asp)
+/. - c.129A>C pathogenic r.(?) p.(Glu43Asp)
?/. - c.136G>C pathogenic r.(?) p.(Glu46Gln)
+/. 2 c.154G>C - r.(?) p.(Asp52His)
+/. 2 c.193G>A - r.(?) p.(Asp65Asn)
+/. 2 c.202A>T pathogenic r.(?) p.(Met68Leu)
+?/. - c.206A>C pathogenic (dominant) r.(?) p.(Glu69Ala)
+/. 2 c.259G>A - r.(?) p.(Ala87Thr)
?/. - c.287G>A VUS r.(?) p.(Arg96Gln)
?/. - c.334G>C VUS r.(?) p.(Val112Leu)
+/. 3 c.337G>T - r.(?) p.(Ala113Ser)
+/. 3 c.341A>G - r.(?) p.(Asn114Ser)
+/. 3 c.343A>G - r.(?) p.(Met115Val)
+/. - c.344T>C pathogenic r.(?) p.(Met115Thr)
+/. 3 c.344T>C - r.(?) p.(Met115Thr)
?/. - c.366T>C VUS r.(?) p.(=)
?/. - c.383A>T pathogenic r.(?) p.(Asp128Val)
+/. 3 c.385C>A - r.(?) p.(Leu129Ile)
+/. 3 c.398A>C - r.(?) p.(Gln133Pro)
-?/. - c.444G>A likely benign r.(?) p.(=)
-?/. - c.447G>A likely benign r.(?) p.(=)
-/. - c.447G>A benign r.(?) p.(=)
+/. 4 c.455T>C - r.(?) p.(Leu152Pro)
-?/. - c.477C>T - r.(=) p.(=)
-?/. - c.477C>T likely benign r.(?) p.(=)
-/. - c.477C>T benign r.(?) p.(=)
./. - c.531-74C>T - r.(=) p.(=)
./. - c.531-74C>T - r.(=) p.(=)
+/. 5 c.547G>C - r.(?) p.(Asp183His)
+/. 5 c.569C>T - r.(?) p.(Ala190Val)
+/. 5 c.578A>T - r.(?) p.(His193Leu)
+/. 5 c.579C>G - r.(?) p.(His193Gln)
?/. - c.677G>A VUS r.(?) p.(Cys226Tyr)
?/. - c.705-6C>T VUS r.(=) p.(=)
+/. 7 c.869T>C - r.(?) p.(Ile290Thr)
+/. 7 c.916G>A - r.(?) p.(Gly306Arg)
+/. 7 c.925G>T - r.(?) p.(Val309Phe)
-?/. - c.942C>T - r.(=) p.(=)
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