Variant #0000170325 (NC_000012.11:g.112036781_112036782ins112036785_112036821;112036782_112036783insGC, ATXN2(NM_002973.3):c.536_537insGC;537_538ins498_534)

Individual ID 00104584
Chromosome 12
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.112036781_112036782ins112036785_112036821;112036782_112036783insGC
DNA change (hg38) -
Published as CAG[36]
ISCN -
DB-ID ATXN2_000004
Variant remarks -
Reference PubMed: Gwinn-Hardy 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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.536_537insGC;537_538ins498_534 Gln[36] 36 r.(?) p.(Gln176_Gln188dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105056 DNA PCR - - ATXN2 2 Johan den Dunnen