Full data view for gene CLN3

An NCL gene variant database
Information The variants shown are described using the NM_001042432.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.906+5G>A r.(=) p.(=) Unknown - VUS g.28493793C>T g.28482472C>T INTRON 11, IVS11G>A, CHR16:28401294G>A - CLN3_000006 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1i c.906+5G>A r.spl? p.? Parent #1 - pathogenic g.28493793C>T g.28482472C>T c.906+5G>A - CLN3_000006 - PubMed: Kousi 2012, Batten disease database - - Germline - - - 0 - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database variant 2nd allele not identified - - United States - - 0 - - 1 Johan den Dunnen
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