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     
?/. 5 c.661G>A r.(?) p.(Gly221Ser) - VUS g.2836047C>T g.2918006C>T G221S - ARSD_000009 recurrent, found 14 times PubMed: Tarpey 2009 - - Germline - 14/208 cases - 0 - Lucy Raymond
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