Transcript #00003115

Transcript name ATPase, H+ transporting, lysosomal V0 subunit a2
Gene name ATP6V0A2 (ATPase, H+ transporting, lysosomal V0 subunit a2)
Chromosome 12
Transcript - NCBI ID NM_012463.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_036595.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

57 entries on 1 page. Showing entries 1 - 57.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-4906T>C likely benign r.(?) p.(=)
-/. - c.-14C>T benign r.(?) p.(=)
-/. - c.-14C>T benign r.(?) p.(=)
-/. - c.-14C>T benign r.(?) p.(=)
+?/. - c.2T>C likely pathogenic r.(?) p.?
?/. - c.26C>T VUS r.(?) p.(Thr9Ile)
-/. - c.117+14G>A benign r.(=) p.(=)
?/. - c.230T>G VUS r.(?) p.(Ile77Ser)
-?/. - c.422G>T likely benign r.(?) p.(Arg141Leu)
-?/. - c.422G>T likely benign r.(?) p.(Arg141Leu)
-/. - c.426T>C benign r.(?) p.(=)
-/. - c.426T>C benign r.(?) p.(=)
-/. - c.432+14C>T benign r.(=) p.(=)
-/. - c.432+14C>T benign r.(=) p.(=)
-/. - c.471T>C benign r.(?) p.(=)
-/. - c.471T>C benign r.(?) p.(=)
-/. - c.471T>C benign r.(?) p.(=)
-?/. - c.614C>T likely benign r.(?) p.(Ala205Val)
-?/. - c.658A>G likely benign r.(?) p.(Ile220Val)
-/. - c.732-23T>C benign r.(=) p.(=)
?/. - c.920C>G VUS r.(?) p.(Ala307Gly)
-/. - c.1016G>A benign r.(?) p.(Arg339His)
-?/. - c.1016G>A likely benign r.(?) p.(Arg339His)
-/. - c.1039-13G>T benign r.(=) p.(=)
?/. - c.1111C>T VUS r.(?) p.(Arg371Cys)
-/. - c.1121A>G benign r.(?) p.(Lys374Arg)
-?/. - c.1179A>G likely benign r.(?) p.(=)
?/. - c.1258G>T VUS r.(?) p.(Val420Leu)
-?/. - c.1486G>A likely benign r.(?) p.(Ala496Thr)
-?/. - c.1486G>A likely benign r.(?) p.(Ala496Thr)
-?/. - c.1495A>G likely benign r.(?) p.(Lys499Glu)
-/. - c.1514+2T>C benign r.spl? p.?
?/. - c.1515-3_1515-2del VUS r.spl? p.?
-/. - c.1515T>C benign r.(?) p.(=)
-/. - c.1515T>C benign r.(?) p.(=)
-?/. - c.1524C>T likely benign r.(?) p.(=)
-?/. - c.1590C>T likely benign r.(?) p.(=)
-?/. - c.1606-19T>C likely benign r.(=) p.(=)
-/. - c.1606-12G>A benign r.(=) p.(=)
?/. - c.1766C>T VUS r.(?) p.(Pro589Leu)
?/. - c.1941T>A VUS r.(?) p.(Tyr647*)
?/. - c.1948A>G VUS r.(?) p.(Arg650Gly)
?/. - c.2055+8C>T VUS r.(=) p.(=)
-?/. - c.2229T>C likely benign r.(?) p.(=)
-?/. - c.2238C>T likely benign r.(?) p.(=)
-/. - c.2438C>T benign r.(?) p.(Ala813Val)
-/. - c.2438C>T benign r.(?) p.(Ala813Val)
-/. - c.2466-3del benign r.spl? p.?
-/. - c.2466-3dup benign r.spl? p.?
?/. - c.2466-2A>T VUS r.spl? p.?
-/. - c.2466-2A>T benign r.spl? p.?
-?/. - c.2466-2_2467del likely benign r.spl? p.?
-?/. - c.2466-1G>T likely benign r.spl? p.?
-?/. - c.2466G>T likely benign r.(?) p.(Trp822Cys)
-?/. - c.2467G>T likely benign r.(?) p.(Val823Leu)
-?/. - c.2468_2469insTTTT likely benign r.(?) p.(Glu824Phefs*29)
-?/. - c.2549A>G likely benign r.(?) p.(Asn850Ser)
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