Transcript #00000802

Transcript name transcript variant 1
Gene name CPXCR1 (CPX chromosome region, candidate 1)
Chromosome X
Transcript - NCBI ID NM_033048.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_149037.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

14 entries on 1 page. Showing entries 1 - 14.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.8A>C - - p.(Tyr3Ser)
?/. - c.8A>C - - p.(Tyr3Ser)
-?/. - c.230A>G likely benign r.(?) p.(Gln77Arg)
-?/. - c.305C>A likely benign r.(?) p.(Ser102Tyr)
?/. - c.392G>A - - p.(Arg131His)
?/. 3 c.392G>A - r.(?) p.(Arg131His)
?/. - c.392G>A - - p.(Arg131His)
?/. - c.466C>A VUS r.(?) p.(Leu156Ile)
?/. 3 c.532A>T - r.(?) p.(Ile178Leu)
?/. - c.610T>A VUS r.(?) p.(Tyr204Asn)
?/. 3 c.755G>C - r.(?) p.(Gly252Ala)
?/. 3 c.773C>T - r.(?) p.(Thr258Ile)
?/. - c.*1A>G - - p.(=)
?/. - c.*1A>G - - p.(=)
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