Full data view for gene ARSB

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

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Template     

Technique     

Disease     

Reference     

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./. - c.31C>T r.(?) p.(Arg11*) pathogenic Both (homozygous) g.78281041G>A - ARSB_000023 DNA SEQ-NG MPS VI - F Iran no - 1 Variome.ir
./. - c.31C>T r.(?) p.(Arg11*) pathogenic Both (homozygous) g.78281041G>A - ARSB_000023 DNA arraySEQ MPS VI - M Iran yes - 1 Variome.ir
./. - c.113_121delGCGCCGGGG r.(?) p.(Gly38_Gly40del) likely benign Parent #1 g.78280951_78280959delCCCCGGCGC - ARSB_000016 DNA SEQ-NG MPS VI - M Iran no - 1 Variome.ir
./. - c.190G>C r.(?) p.(Gly64Arg) likely pathogenic Parent #1 g.78280882C>G - ARSB_000020 DNA SEQ MPS VI - M Iran yes - 1 Variome.ir
./+ 1 c.235G>A r.(?) p.(Gly79Arg) likely pathogenic Both (homozygous) g.78280837C>T - ARSB_000001 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.235G>A r.(?) p.(Gly79Arg) likely pathogenic Both (homozygous) g.78280837C>T - ARSB_000001 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./+ - c.274A>C r.(?) p.(Thr92Pro) likely pathogenic Both (homozygous) g.78280798T>G - ARSB_000018 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
+/+ - c.275C>A r.(?) p.(Thr92Lys) likely pathogenic Both (homozygous) g.78280797G>T - ARSB_000005 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.275C>A r.(?) p.(Thr92Lys) likely pathogenic Both (homozygous) g.78280797G>T - ARSB_000005 DNA SEQ-NG MPS VI - F Iran - - 1 Variome.ir
./. - c.275C>A r.(?) p.(Thr92Lys) likely pathogenic Both (homozygous) g.78280797G>T - ARSB_000005 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.281C>A r.(?) p.(Ser94*) pathogenic Both (homozygous) g.78280791G>T - ARSB_000011 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./. - c.281C>A r.(?) p.(Ser94*) pathogenic Both (homozygous) g.78280791G>T - ARSB_000011 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./. - c.281C>A r.(?) p.(Ser94*) pathogenic Both (homozygous) g.78280791G>T - ARSB_000011 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.281C>A r.(?) p.(Ser94*) pathogenic Both (homozygous) g.78280791G>T - ARSB_000011 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./+? - c.312G>C r.(?) p.(Gln104His) pathogenic Both (homozygous) g.78280760C>G - ARSB_000009 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
+/+ - c.427_460del r.(?) p.(Val143Asnfs*30) pathogenic Parent #2 g.78264868_78264901del - ARSB_000015 DNA SEQ-NG MPS VI - M Iran no - 1 Variome.ir
+/+ - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic Parent #2 g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - F Iran - - 1 Variome.ir
+/+ - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
+/+ - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ MPS VI - F Iran yes - 1 Variome.ir
+/+ - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./+ - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - - Iran yes - 1 Variome.ir
./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - M Iran no - 1 Variome.ir
./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic Both (homozygous) g.78264898C>T - ARSB_000002 DNA SEQ MPS VI - F Iran yes - 1 Variome.ir
./. - c.478C>T r.(?) p.(Arg160*) pathogenic Both (homozygous) g.78264850G>A - ARSB_000019 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./. - c.479G>A r.(?) p.(Arg160Gln) pathogenic Both (homozygous) g.78264849C>T - ARSB_000022 DNA SEQ-NG MPS IIIB - F Iran yes - 1 Variome.ir
./. - c.532C>G r.(?) p.(His178Asp) likely pathogenic Both (homozygous) g.78260397G>C - ARSB_000012 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./. - c.532C>G r.(?) p.(His178Asp) likely pathogenic Both (homozygous) g.78260397G>C - ARSB_000012 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.571C>T r.(?) p.(Arg191*) pathogenic Both (homozygous) g.78260358G>A - ARSB_000025 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
+/+ - c.710C>A r.(?) p.(Ala237Asp) pathogenic Both (homozygous) g.78251306G>T - ARSB_000007 DNA SEQ MPS VI - M Iran - - 1 Variome.ir
./. - c.710C>A r.(?) p.(Ala237Asp) likely pathogenic Both (homozygous) g.78251306G>T - ARSB_000007 DNA SEQ-NG MPS VI - M Iran - - 1 Variome.ir
./. - c.725A>G r.(?) p.(His242Arg) likely pathogenic Both (homozygous) g.78251291T>C - ARSB_000024 DNA SEQ-NG MPS VI - M Iran no - 1 Variome.ir
+/+ - c.753C>G r.(?) p.(Tyr251*) pathogenic Both (homozygous) g.78251263G>C - ARSB_000003 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
+/+ - c.753C>G r.(?) p.(Tyr251*) pathogenic Both (homozygous) g.78251263G>C - ARSB_000003 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./. - c.753C>G r.(?) p.(Tyr251*) pathogenic Both (homozygous) g.78251263G>C - ARSB_000003 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./. - c.898+1G>A r.spl? p.? pathogenic Both (homozygous) g.78251117C>T - ARSB_000029 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./+ - c.904G>A r.(?) p.(Gly302Arg) pathogenic Both (homozygous) g.78181645C>T - ARSB_000008 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.904G>A r.(?) p.(Gly302Arg) pathogenic Both (homozygous) g.78181645C>T - ARSB_000008 DNA SEQ MPS VI - F Iran yes - 1 Variome.ir
./. - c.934T>C r.(?) p.(Trp312Arg) likely pathogenic Both (homozygous) g.78181615A>G - ARSB_000028 DNA SEQ-NG MPS VI - M Iran - - 1 Variome.ir
+/+ - c.962T>C r.(?) p.(Leu321Pro) pathogenic Both (homozygous) g.78181587A>G - ARSB_000006 DNA SEQ-NG MPS VI - M - - - 1 Variome.ir
+/+ - c.962T>C r.(?) p.(Leu321Pro) pathogenic Both (homozygous) g.78181587A>G - ARSB_000006 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.962T>C r.(?) p.(Leu321Pro) pathogenic Both (homozygous) g.78181587A>G - ARSB_000006 DNA SEQ-NG MPS VI - M Iran - - 1 Variome.ir
./. - c.962T>C r.(?) p.(Leu321Pro) pathogenic Parent #1 g.78181587A>G - ARSB_000006 DNA SEQ-NG MPS VI - M Iran no - 1 Variome.ir
./. - c.962T>C r.(?) p.(Leu321Pro) pathogenic Both (homozygous) g.78181587A>G - ARSB_000006 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.962T>C r.(?) p.(Leu321Pro) pathogenic Both (homozygous) g.78181587A>G - ARSB_000006 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.962T>C r.(?) p.(Leu321Pro) pathogenic Both (homozygous) g.78181587A>G - ARSB_000006 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.979C>T r.(?) p.(Arg327*) pathogenic Both (homozygous) g.78181570G>A - ARSB_000027 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.982G>C r.(?) p.(Gly328Arg) likely pathogenic Both (homozygous) g.78181567C>G - ARSB_000017 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./. - c.982G>C r.(?) p.(Gly328Arg) likely pathogenic Both (homozygous) g.78181567C>G - ARSB_000017 DNA SEQ MPS VI - M Iran yes - 1 Variome.ir
+/+ - c.985del r.(?) p.(Val329Trpfs*9) pathogenic Both (homozygous) g.78181564del - ARSB_000013 DNA SEQ MPS VI - F Iran yes - 1 Variome.ir
./. - c.1142+2T>C r.spl? p.? pathogenic Both (homozygous) g.78181405A>G - ARSB_000014 DNA SEQ MPS VI - M Afghanistan yes - 1 Variome.ir
./. - c.1178A>G r.(?) p.(His393Arg) likely pathogenic Both (homozygous) g.78135214T>C - ARSB_000026 DNA SEQ-NG MPS VI - M Iran yes - 1 Variome.ir
./. - c.1339T>C r.(?) p.(Cys447Arg) likely pathogenic Both (homozygous) g.78076483A>G - ARSB_000021 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
./. - c.1601A>G r.(?) p.(*534Trpext*50) VUS Both (homozygous) g.78076221T>C - ARSB_000010 DNA SEQ-NG MPS VI - F Iran yes - 1 Variome.ir
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