Variant #0000168561 (NC_000011.9:g.121340775C>T, NM_003105.5:c.345C>T (SORL1))

Individual ID 00103472
Chromosome 11
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.121340775C>T
DNA change (hg38) g.121470066C>T
Published as -
ISCN -
DB-ID SORL1_000009
Variant remarks -
Reference Journal: Holstege 2017
ClinVar ID -
dbSNP ID rs78397535
Origin Germline
Segregation -
Frequency 1/640 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-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 2017-04-18 16:53:40 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SORL1 NM_003105.5 -?/. 2 c.345C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103929 DNA SEQ;SEQ-NG - - APOE, SORL1 2 Henne Holstege


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