Variant #0000168631 (NC_000011.9:g.121367626T>C, NM_003105.5:c.807T>C (SORL1))

Individual ID 00103474
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.121367626T>C
DNA change (hg38) g.121496917T>C
Published as -
ISCN -
DB-ID SORL1_000016 See all 8 reported entries
Variant remarks VPS10
Reference Journal: Holstege 2017
ClinVar ID -
dbSNP ID rs12364988
Origin Germline
Segregation -
Frequency 318/640 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.48933 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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SORL1 NM_003105.5 -/. 6 c.807T>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103931 DNA SEQ-NG - - SORL1 1 Henne Holstege


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