Full data view for gene GALNS

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

3 entries on 1 page. Showing entries 1 - 3.
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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.542A>G r.(?) p.(Tyr181Cys) likely pathogenic Both (homozygous) g.88904054T>C - GALNS_000005 DNA SEQ-NG MPS IVA - M Iran yes - 1 Variome.ir
./+ - c.542A>G r.(?) p.(Tyr181Cys) pathogenic Both (homozygous) g.88904054T>C - GALNS_000005 DNA SEQ-NG MPS IVA - M Iran yes - 1 Variome.ir
./. - c.542A>G r.(?) p.(Tyr181Cys) likely pathogenic Both (homozygous) g.88904054T>C - GALNS_000005 DNA SEQ MPS IVA - F Iran yes - 1 Variome.ir
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