Unique variants in the CLN8 gene

An NCL gene variant database
Information The variants shown are described using the NM_018941.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/. 1 - c.70C>G r.(70c>g) p.(Arg24Gly) - likely pathogenic g.1719290C>G g.1771124C>G p.Arg24Gly - CLN8_000056 Finnish patient: In association with p.Gly237Arg = EPMR or even milder PubMed: Siintola 2006a, copied from {DB:CNL} - rs104894064 Germline - - - - - Johan den Dunnen
+?/. 1 - c.709G>A r.(709g>a) p.(Gly237Arg) - likely pathogenic g.1728581G>A g.1780415G>A p.Gly237Arg - CLN8_000073 Finnish patient: In association with c.70C>G = EPMR or even milder PubMed: Siintola 2006a, copied from {DB:CNL} - - Germline - - - - - Johan den Dunnen
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