Variant #0000327144 (NC_000002.11:g.86075310dup, NM_003896.3:c.336dup (ST3GAL5))
| Chromosome |
2 |
| 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.86075310dup |
| DNA change (hg38) |
g.85848187dup |
| Published as |
ST3GAL5(NM_001042437.1):c.267_268insT (p.(Gln90SerfsTer22)) |
| ISCN |
- |
| DB-ID |
ST3GAL5_000002 |
| 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) |
Retrieve |
| Owner |
VKGL-NL_Leiden |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Leiden |
| Date created |
2018-01-15 20:58:59 +01:00 (CET) |
| Date last edited |
2020-08-06 14:59:34 +02:00 (CEST) |

Variant on transcripts
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