Variant #0000168535 (NC_000011.9:g.121384931A>C, NM_003105.5:c.1112A>C (SORL1))

Individual ID 00103553
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.121384931A>C
DNA change (hg38) g.121514222A>C
Published as -
ISCN -
DB-ID SORL1_000027 See all 6 reported entries
Variant remarks VPS10
Reference Journal: Holstege 2017
ClinVar ID -
dbSNP ID rs150609294
Origin Germline
Segregation -
Frequency 5/1268 controls
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0013 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 2021-04-26 03:10:35 +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 -?/. 8 c.1112A>C r.(?) p.(Asn371Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104010 DNA SEQ-NG - - SORL1 1 Henne Holstege


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