Variant #0000546595 (NC_000012.11:g.111886029C>T, ATXN2(NM_002973.3):c.*4587G>A)

Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111886029C>T
DNA change (hg38) g.111448225C>T
Published as SH2B3(NM_005475.2):c.1651C>T (p.R551W)
ISCN -
DB-ID ATXN2_000034
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00011 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
ATXN2 NM_002973.3 ?/. - c.*4587G>A - r.(=) p.(=)
SH2B3 NM_005475.2 ?/. - c.1651C>T - r.(?) p.(Arg551Trp)