Variant #0000170323 (NC_000012.11:g.112036778_112036779ins[TT;112036754_112036793];112036797_112036798ins112036768_112036782, ATXN2(NM_002973.3):c.521_522ins537_551;540_541ins[526_551;A])

Individual ID 00104582
Chromosome 12
Allele Parent #1
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.112036778_112036779ins[TT;112036754_112036793];112036797_112036798ins112036768_112036782
DNA change (hg38) -
Published as -
ISCN -
DB-ID ATXN2_000002
Variant remarks -
Reference PubMed: Charles 2007
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.521_522ins537_551;540_541ins[526_551;A] Gln[37] 8-1-9-1-4-1-4-1-8 r.(?) p.(Gln175_Gln188dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105054 DNA PCR;SEQ - - ATXN2 1 Johan den Dunnen