Variant #0000170450 (NC_000012.11:g.112036767_112036768ins112036782_112036793;112036797C>T, ATXN2(NM_002973.3):c.522G>A;551_552ins526_537)

Individual ID 00104703
Chromosome 12
Allele Maternal (inferred)
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.112036767_112036768ins112036782_112036793;112036797C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID ATXN2_000006 See all 6 reported entries
Variant remarks -
Reference PubMed: Yu 2011, Journal: Yu 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
ATXN2 NM_002973.3 -/. 1 c.522G>A;551_552ins526_537 Gln[27] 8-1-4-1-4-1-8 r.(?) p.(Gln185_Gln188dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105175 DNA PCR;SEQ - - ATXN2 1 Johan den Dunnen