Transcript #00001908

Transcript name abhydrolase domain containing 14A
Gene name ABHD14A (abhydrolase domain containing 14A)
Chromosome 3
Transcript - NCBI ID NM_015407.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_056222.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.494C>T likely benign r.(?) p.(Ala165Val)
-?/. - c.556C>T likely benign r.(?) p.(His186Tyr)
-?/. - c.*3115C>G likely benign r.(=) p.(=)
-?/. - c.*3115C>G likely benign r.(=) p.(=)
-?/. - c.*4824C>T likely benign r.(=) p.(=)
?/. - c.*6160G>A VUS r.(=) p.(=)
?/. - c.*6342_*6345del VUS r.(=) p.(=)
-?/. - c.*7585T>C likely benign r.(=) p.(=)
+/. - c.*7803C>T pathogenic r.(=) p.(=)
?/. - c.*7807C>T VUS r.(=) p.(=)
-?/. - c.*8008G>A likely benign r.(=) p.(=)
?/. - c.*8008G>A VUS r.(=) p.(=)
-?/. - c.*12821_*12822insCTTGGC likely benign r.(=) p.(=)
-?/. - c.*12836_*12847del likely benign r.(=) p.(=)
-/. - c.*12842_*12847del benign r.(=) p.(=)
-?/. - c.*12842_*12847del likely benign r.(=) p.(=)
-/. - c.*12842_*12847dup benign r.(=) p.(=)
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