Transcript #00000094

Transcript name hexosaminidase A (alpha polypeptide)
Gene name HEXA (hexosaminidase A (alpha polypeptide))
Chromosome 15
Transcript - NCBI ID NM_000520.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000511.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

46 entries on 1 page. Showing entries 1 - 46.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-226A>G benign r.(?) p.(=)
+/. - c.1A>T pathogenic r.(?) p.?
-?/. - c.8G>C likely benign r.(?) p.(Ser3Thr)
-/. - c.9C>T benign r.(?) p.(=)
?/. - c.65C>T VUS r.(?) p.(Ala22Val)
+/. - c.234G>A pathogenic r.(?) p.(Trp78*)
+/. - c.409C>T pathogenic r.(?) p.(Arg137*)
+/. - c.508C>T pathogenic r.(?) p.(Arg170Trp)
?/. - c.533G>A - r.(?) p.(Arg178His)
+/. - c.533G>A pathogenic r.(?) p.(Arg178His)
?/. - c.548T>A VUS r.(?) p.(Leu183His)
-/. - c.672+30T>G benign r.(=) p.(=)
-/. - c.672+30T>G benign r.(=) p.(=)
?/. - c.739C>T VUS r.(?) p.(Arg247Trp)
-?/. - c.739C>T likely benign r.(?) p.(Arg247Trp)
+/. - c.745C>T pathogenic r.(?) p.(Arg249Trp)
?/. - c.746G>A VUS r.(?) p.(Arg249Gln)
+/. - c.749G>A pathogenic r.(?) p.(Gly250Asp)
-/. - c.759G>A benign r.(?) p.(=)
-?/. - c.759G>A likely benign r.(?) p.(=)
?/. - c.805G>A - r.(?) p.(Gly269Ser)
+/. - c.805G>A pathogenic r.(?) p.(Gly269Ser)
+/. - c.805+1G>A pathogenic r.spl? p.?
+/. 8 c.915_917del - r.(?) p.(Phe305del)
?/. - c.1073+1G>A - r.(=) p.(=)
+/. - c.1073+1G>A pathogenic r.spl? p.?
-/. - c.1074-94C>A benign r.(=) p.(=)
-?/. - c.1107C>T likely benign r.(?) p.(=)
?/. - c.1154C>T VUS r.(?) p.(Pro385Leu)
-?/. - c.1216C>T likely benign r.(?) p.(=)
?/. - c.1273_1274insTATC - r.(?) p.(Tyr427Ilefs*5)
+?/. - c.1274_1277dup likely pathogenic r.(?) p.(Tyr427Ilefs*5)
-/. - c.1306A>G benign r.(?) p.(Ile436Val)
-/. - c.1306A>G benign r.(?) p.(Ile436Val)
-/. - c.1306A>G benign r.(?) p.(Ile436Val)
-?/. - c.1338T>C likely benign r.(?) p.(=)
+/. - c.1421+1G>C pathogenic r.spl? p.?
-/. - c.1422-69G>A benign r.(=) p.(=)
+/. - c.1432G>A pathogenic r.(?) p.(Gly478Arg)
-?/. - c.1443C>T likely benign r.(?) p.(=)
?/. - c.1490A>G VUS r.(?) p.(Tyr497Cys)
+/. - c.1496G>A pathogenic r.(?) p.(Arg499His)
-/. - c.1518A>G benign r.(?) p.(=)
-/. - c.1518A>G benign r.(?) p.(=)
-/. - c.1518A>G benign r.(?) p.(=)
-?/. - c.1527-6T>C likely benign r.(=) p.(=)
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