Full data view for gene SORL1

Information The variants shown are described using the NM_003105.5 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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     
-?/. 12 c.1678G>A r.(?) p.(Glu560Lys) Parent #1 - likely benign g.121403254G>A g.121532545G>A - - SORL1_000041 VPS10 PubMed: Verheijen 2016, Journal: Verheijen 2016 - rs150303243 Germline - 1/1255 cases - - - DNA SEQ-NG - - AD 27026413-cases PubMed: Verheijen 2016, Journal: Verheijen 2016 1255 EOAD cases - - - European - - - - 1 Johan den Dunnen
-?/. 12 c.1678G>A r.(?) p.(Glu560Lys) Parent #1 - likely benign g.121403254G>A g.121532545G>A - - SORL1_000041 VPS10 Journal: Holstege 2017 - rs150303243 Germline - 1/640 cases - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
-?/. - c.1678G>A r.(?) p.(Glu560Lys) Unknown - likely benign g.121403254G>A g.121532545G>A SORL1(NM_003105.5):c.1678G>A (p.E560K) - SORL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.