Variant #0000117059 (NC_000009.11:g.135221695_135221697del, NM_015046.5:c.343_345del (SETX))
Individual ID |
00073228 |
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.135221695_135221697del |
DNA change (hg38) |
g.132346308_132346310del |
Published as |
340delCTT |
ISCN |
- |
DB-ID |
SETX_000001 |
Variant remarks |
- |
Reference |
PubMed: Airoldi 2010, OMIM:var0014 |
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 |
2010-06-18 15:36:19 +02:00 (CEST) |
Date last edited |
2020-06-26 10:43:11 +02:00 (CEST) |

Variant on transcripts
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