Transcript #00013701

Transcript name methylmalonic aciduria (cobalamin deficiency) cblA type
Gene name MMAA (methylmalonic aciduria (cobalamin deficiency) cblA type)
Chromosome 4
Transcript - NCBI ID NM_172250.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_758454.1
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.92G>A likely benign r.(?) p.(Ser31Asn)
+/. - c.433C>T pathogenic r.(?) p.(Arg145*)
+/. - c.433C>T pathogenic r.(?) p.(Arg145*)
+/. - c.586C>T pathogenic r.(?) p.(Arg196*)
+/. - c.593_596del ACMG: 5 r.(?) p.(Thr198Serfs*6)
+?/. - c.651dup ACMG: 4 r.(?) p.(Gly218Argfs*9)
+/. - c.742C>T pathogenic r.(?) p.(Gln248*)
-/. - c.747G>A benign r.(?) p.(=)
-/. - c.747G>A benign r.(?) p.(=)
-?/. - c.966A>G likely benign r.(?) p.(=)
?/. - c.1079G>A VUS r.(?) p.(Arg360Gln)
-/. - c.1089G>C benign r.(?) p.(Gln363His)
?/. - c.1120A>G VUS r.(?) p.(Ser374Gly)
?/. - c.1186G>T VUS r.(?) p.(Val396Phe)
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