Full data view for gene ARSB

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

7 entries on 1 page. Showing entries 1 - 7.
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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     

Gender     

Geographic origin     

Consanguinity     

Remarks     

Panel size     

Owner     
+/+ - 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
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