Variant #0000168418 (NC_000011.9:g.121391400C>T, NM_003105.5:c.1246C>T (SORL1))

Individual ID 00103337
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.121391400C>T
DNA change (hg38) g.121520691C>T
Published as -
ISCN -
DB-ID SORL1_000029
Variant remarks -
Reference PubMed: Verheijen 2016, Journal: Verheijen 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/1255 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license No license selected
Created by Henne Holstege
Date created 2017-04-11 15:22:08 +02:00 (CEST)
Date last edited 2017-04-14 16:20:42 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SORL1 NM_003105.5 +/. 9 c.1246C>T r.(?) p.(Arg416*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103793 DNA SEQ-NG - - SORL1 1 Johan den Dunnen


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