Variant #0000170252 (NC_000006.11:g.16327865_16327951=, NM_000332.3:c.591_677= (ATXN1))
Individual ID |
00104556 |
Chromosome |
6 |
Allele |
Parent #1 |
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.16327865_16327951= |
DNA change (hg38) |
g.16327634_16327720= |
Published as |
591_677[29] |
ISCN |
- |
DB-ID |
ATXN1_000000 |
Variant remarks |
- |
Reference |
PubMed: Zuhlke 2002, Journal: Zuhlke 2002 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2017-05-12 19:04:18 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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