Variant #0000170326 (NC_000012.11:g.112036782_112036784del, ATXN2(NM_002973.3):c.537_539del)

Individual ID 00104584
Chromosome 12
Allele Maternal (inferred)
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.112036782_112036784del
DNA change (hg38) g.111598978_111598980del
Published as CAG[22]
ISCN -
DB-ID ATXN2_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Gwinn-Hardy 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
ATXN2 NM_002973.3 -/. 1 c.537_539del Gln[22] 22 r.(?) p.(Gln188del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105056 DNA PCR - - ATXN2 2 Johan den Dunnen