Variant #0000443910 (NC_000023.10:g.7175314G>A, NM_001320752.2:c.205G>A (STS))
Individual ID |
00211187 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.7175314G>A |
DNA change (hg38) |
g.7257273G>A |
Published as |
NM_000351.4:c.184G>A |
ISCN |
- |
DB-ID |
STS_000078 |
Variant remarks |
lack of STS enzymatic activity |
Reference |
PubMed: Ohyama 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Michel van Geel |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Michel van Geel |
Date created |
2019-01-03 22:20:22 +01:00 (CET) |
Date last edited |
2023-03-16 18:52:01 +01:00 (CET) |

Variant on transcripts
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