Variant #0000333189 (NC_000023.10:g.13337743_13337760del, ATXN3L(NM_001135995.1):c.294_311del)
Chromosome |
X |
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.13337743_13337760del |
DNA change (hg38) |
g.13319624_13319641del |
Published as |
ATXN3L(NM_001135995.1):c.294_311del (p.(Glu98_Ile104delinsAsp)) |
ISCN |
- |
DB-ID |
ATXN3L_000007 |
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) |
0.00334 View details |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |

Variant on transcripts
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