All variants in the ARSD gene

Information The variants shown are described using the NM_001669.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.1600G>A r.(?) p.(Glu534Lys) - likely benign g.2825494C>T g.2907453C>T ARSD(NM_001669.3):c.1600G>A (p.(Glu534Lys)) - ARSD_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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