Variant #0000128442 (NC_000006.11:g.152453291G>A, NM_182961.3:c.26060C>T (SYNE1))

Individual ID 00079621
Chromosome 6
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.152453291G>A
DNA change (hg38) g.152132156G>A
Published as g.496176C>T (T8639I)
ISCN -
DB-ID SYNE1_000018 See all 3 reported entries
Variant remarks transgenics mouse, deleted last exon
Reference PubMed: Gros-Louis 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.05102 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-12-28 11:56:10 +01:00 (CET)
Date last edited 2012-11-02 20:43:05 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SYNE1 NM_182961.3 -/. 144 c.26060C>T r.26060c>u p.Thr8687Ile



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079694 DNA SEQ - - SYNE1 1 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.