Unique variants in the ARSB gene

Information The variants shown are described using the NM_000046.3 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     
./. 2 - c.31C>T r.(?) p.(Arg11*) pathogenic g.78281041G>A - ARSB_000023 Variome.ir
./. 1 - c.113_121delGCGCCGGGG r.(?) p.(Gly38_Gly40del) likely benign g.78280951_78280959delCCCCGGCGC - ARSB_000016 Variome.ir
./. 1 - c.190G>C r.(?) p.(Gly64Arg) likely pathogenic g.78280882C>G - ARSB_000020 Variome.ir
./+, ./. 2 1 c.235G>A r.(?) p.(Gly79Arg) likely pathogenic g.78280837C>T - ARSB_000001 Variome.ir
./+ 1 - c.274A>C r.(?) p.(Thr92Pro) likely pathogenic g.78280798T>G - ARSB_000018 Variome.ir
+/+, ./. 3 - c.275C>A r.(?) p.(Thr92Lys) likely pathogenic g.78280797G>T - ARSB_000005 Variome.ir
./. 4 - c.281C>A r.(?) p.(Ser94*) pathogenic g.78280791G>T - ARSB_000011 Variome.ir
./+? 1 - c.312G>C r.(?) p.(Gln104His) pathogenic g.78280760C>G - ARSB_000009 Variome.ir
+/+ 1 - c.427_460del r.(?) p.(Val143Asnfs*30) pathogenic g.78264868_78264901del - ARSB_000015 Variome.ir
+/+, ./+, ./. 15 - c.430G>A r.(?) p.(Gly144Arg) pathogenic g.78264898C>T - ARSB_000002 Variome.ir
./. 1 - c.478C>T r.(?) p.(Arg160*) pathogenic g.78264850G>A - ARSB_000019 Variome.ir
./. 1 - c.479G>A r.(?) p.(Arg160Gln) pathogenic g.78264849C>T - ARSB_000022 Variome.ir
./. 2 - c.532C>G r.(?) p.(His178Asp) likely pathogenic g.78260397G>C - ARSB_000012 Variome.ir
./. 1 - c.571C>T r.(?) p.(Arg191*) pathogenic g.78260358G>A - ARSB_000025 Variome.ir
+/+, ./. 2 - c.710C>A r.(?) p.(Ala237Asp) likely pathogenic, pathogenic g.78251306G>T - ARSB_000007 Variome.ir
./. 1 - c.725A>G r.(?) p.(His242Arg) likely pathogenic g.78251291T>C - ARSB_000024 Variome.ir
+/+, ./. 3 - c.753C>G r.(?) p.(Tyr251*) pathogenic g.78251263G>C - ARSB_000003 Variome.ir
./. 1 - c.898+1G>A r.spl? p.? pathogenic g.78251117C>T - ARSB_000029 Variome.ir
./+, ./. 2 - c.904G>A r.(?) p.(Gly302Arg) pathogenic g.78181645C>T - ARSB_000008 Variome.ir
./. 1 - c.934T>C r.(?) p.(Trp312Arg) likely pathogenic g.78181615A>G - ARSB_000028 Variome.ir
+/+, ./. 7 - c.962T>C r.(?) p.(Leu321Pro) pathogenic g.78181587A>G - ARSB_000006 Variome.ir
./. 1 - c.979C>T r.(?) p.(Arg327*) pathogenic g.78181570G>A - ARSB_000027 Variome.ir
./. 2 - c.982G>C r.(?) p.(Gly328Arg) likely pathogenic g.78181567C>G - ARSB_000017 Variome.ir
+/+ 1 - c.985del r.(?) p.(Val329Trpfs*9) pathogenic g.78181564del - ARSB_000013 Variome.ir
./. 1 - c.1142+2T>C r.spl? p.? pathogenic g.78181405A>G - ARSB_000014 Variome.ir
./. 1 - c.1178A>G r.(?) p.(His393Arg) likely pathogenic g.78135214T>C - ARSB_000026 Variome.ir
./. 1 - c.1339T>C r.(?) p.(Cys447Arg) likely pathogenic g.78076483A>G - ARSB_000021 Variome.ir
./. 1 - c.1601A>G r.(?) p.(*534Trpext*50) VUS g.78076221T>C - ARSB_000010 Variome.ir
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