Full data view for gene NAGLU

Information The variants shown are described using the NM_000263.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.259G>C r.(?) p.(Ala87Pro) VUS Both (homozygous) g.40688549G>C - NAGLU_000004 DNA SEQ-NG MPS IIIB - F Iran - - 1 Variome.ir
./. - c.259G>C r.(?) p.(Ala87Pro) VUS Both (homozygous) g.40688549G>C - NAGLU_000004 DNA SEQ-NG MPS IIIB - F Iran - - 1 Variome.ir
./. - c.259G>C r.(?) p.(Ala87Pro) VUS Parent #2 g.40688549G>C - NAGLU_000004 DNA SEQ-NG MPS IIIB - M Iran yes - 1 Variome.ir
./. - c.457G>A r.(?) p.(Glu153Lys) likely pathogenic Parent #1 g.40689489G>A - NAGLU_000007 DNA SEQ-NG MPS IIIB - M Iran no - 1 Variome.ir
./. - c.480delT r.(?) p.(Asn160Lysfs*25) pathogenic Both (homozygous) g.40689512delT - NAGLU_000005 DNA SEQ-NG MPS IIIB - F Iran yes - 1 Variome.ir
./. - c.534_535delGT r.(?) p.(Tyr179Profs*12) pathogenic Both (homozygous) g.40690359_40690360delGT - NAGLU_000010 DNA SEQ MPS IVA - F Iran yes - 1 Variome.ir
./. - c.607C>T r.(?) p.(Arg203*) pathogenic Both (homozygous) g.40690432C>T - NAGLU_000014 DNA SEQ-NG MPS IIIB - M Iran yes - 1 Variome.ir
./. - c.608G>A r.(?) p.(Arg203Gln) VUS Both (homozygous) g.40690433G>A - NAGLU_000009 DNA SEQ-NG MPS IIIB - F Iran no - 1 Variome.ir
./+? - c.735C>A r.(?) p.(Phe245Leu) VUS Both (homozygous) g.40690744C>A - NAGLU_000001 DNA SEQ-NG MPS IIIB - F Iran yes - 1 Variome.ir
./. - c.934G>A r.(?) p.(Asp312Asn) pathogenic Both (homozygous) g.40693137G>A - NAGLU_000012 DNA SEQ MPS IIIB - F Iran yes - 1 Variome.ir
./. - c.1384G>C r.(?) p.(Gly462Arg) VUS Both (homozygous) g.40695408G>C - NAGLU_000015 DNA SEQ-NG MPS IIIB - M Iran yes - 1 Variome.ir
./. - c.1422G>A r.(?) p.(Trp474*) pathogenic Both (homozygous) g.40695446G>A - NAGLU_000006 DNA SEQ-NG MPS IIIB - F Iran yes - 1 Variome.ir
./. - c.1444C>T r.(?) p.(Arg482Trp) pathogenic Both (homozygous) g.40695468C>T - NAGLU_000011 DNA SEQ MPS IIIB - F Iran yes - 1 Variome.ir
./. - c.1444C>T r.(?) p.(Arg482Trp) pathogenic Both (homozygous) g.40695468C>T - NAGLU_000011 DNA SEQ-NG MPS IIIB - M Iran yes - 1 Variome.ir
./. - c.1694G>A r.(?) p.(Arg565Gln) pathogenic Both (homozygous) g.40695718G>A - NAGLU_000003 DNA SEQ-NG MPS IIIB - M Iran no - 1 Variome.ir
./. - c.1870C>T r.(?) p.(Gln624*) pathogenic Parent #2 g.40695894C>T - NAGLU_000008 DNA SEQ-NG MPS IIIB - M Iran no - 1 Variome.ir
./. - c.1946G>A r.(?) p.(Trp649*) pathogenic Parent #1 g.40695970G>A - NAGLU_000013 DNA SEQ-NG MPS IIIB - M Iran yes - 1 Variome.ir
./. - c.1984C>T r.(?) p.(Gln662*) pathogenic Both (homozygous) g.40696008C>T - NAGLU_000002 DNA SEQ-NG MPS IIIB - M Iran yes - 1 Variome.ir
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