Transcript #00016410

Transcript name phosphomannomutase 1
Gene name PMM1 (phosphomannomutase 1)
Chromosome 22
Transcript - NCBI ID NM_002676.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002667.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

3 entries on 1 page. Showing entries 1 - 3.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.694G>A VUS r.(?) p.(Asp232Asn)
-?/. - c.705T>C likely benign r.(?) p.(=)
?/. - c.*2487A>G VUS r.(=) p.(=)
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