Variant #0000261318 (NC_000012.11:g.111902514G>A, ATXN2(NM_002973.3):c.3322C>T)

Chromosome 12
Allele Unknown
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.111902514G>A
DNA change (hg38) g.111464710G>A
Published as ATXN2(NM_002973.3):c.3322C>T (p.P1108S), ATXN2(NM_002973.4):c.2842C>T (p.P948S)
ISCN -
DB-ID ATXN2_000012 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00084 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
ATXN2 NM_002973.3 -?/. - c.3322C>T - r.(?) p.(Pro1108Ser)