Variant #0000308024 (NC_000012.11:g.111885372_111885376del, ATXN2(NM_002973.3):c.*5260_*5264del)

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.111885372_111885376del
DNA change (hg38) g.111447568_111447572del
Published as SH2B3(NM_005475.2):c.1236+24_1236+28delTGGGG
ISCN -
DB-ID SH2B3_000006 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) Variant not found in online data sets
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.*5260_*5264del - r.(=) p.(=)
SH2B3 NM_005475.2 -/. - c.1236+24_1236+28del - r.(=) p.(=)