Variant #0000168562 (NC_000011.9:g.121348824C>G, NC_000011.9(NM_003105.5):c.403-3C>G (SORL1))

Individual ID 00103473
Chromosome 11
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.121348824C>G
DNA change (hg38) g.121478115C>G
Published as -
ISCN -
DB-ID SORL1_000010
Variant remarks -
Reference Journal: Holstege 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/640 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Henne Holstege
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-04-11 15:22:08 +02:00 (CEST)
Date last edited 2025-02-20 14:27:12 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SORL1 NM_003105.5 -/. 2i c.403-3C>G r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103930 DNA SEQ;SEQ-NG - - APOE, SORL1 2 Henne Holstege


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