Variant #0000723834 (NC_000012.11:g.111885804C>T, ATXN2(NM_002973.3):c.*4812G>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.111885804C>T
DNA change (hg38) -
Published as SH2B3(NM_005475.2):c.1426C>T (p.L476F)
ISCN -
DB-ID ATXN2_000059
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) 0.00037 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
ATXN2 NM_002973.3 ?/. - c.*4812G>A - r.(=) p.(=)
SH2B3 NM_005475.2 ?/. - c.1426C>T - r.(?) p.(Leu476Phe)