Unique variants in the PPT1 gene

An NCL gene variant database
Information The variants shown are described using the NM_000310.3 transcript reference sequence.

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Effect     

Reported     

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     
+/. 42 4 c.364A>T r.(364a>u) p.(Arg122Trp) - pathogenic g.40557070T>A g.40091398T>A p.Arg122Trp - PPT1_000001 1 more item PubMed: Vesa 1995, Batten disease database - rs137852695 Germline - - - - - Johan den Dunnen
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