Transcript #00004887

Transcript name cerebellar degeneration-related protein 1, 34kDa
Gene name CDR1 (cerebellar degeneration-related protein 1, 34kDa)
Chromosome X
Transcript - NCBI ID NM_004065.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004056.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

6 entries on 1 page. Showing entries 1 - 6.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.300G>A - r.(=) p.(=)
-?/. - c.452G>A likely benign r.(?) p.(Arg151His)
?/. - c.481G>A VUS r.(?) p.(Gly161Arg)
?/. - c.571T>C - r.(?) p.(Trp191Arg)
?/. - c.620T>C - r.(?) p.(Ile207Thr)
-?/. - c.670C>T likely benign r.(?) p.(Arg224Cys)
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