Variant #0000915380 (NC_000020.10:g.44054349T>C, NM_015937.5:c.1620T>C (PIGT))
| Chromosome |
20 |
| Allele |
Unknown |
| 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.44054349T>C |
| DNA change (hg38) |
- |
| Published as |
PIGT(NM_015937.6):c.1620T>C (p.Y540=) |
| ISCN |
- |
| DB-ID |
PIGT_000055 |
| 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) |
0.73798 View details |
| Owner |
VKGL-NL_Groningen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Groningen |
| Date created |
2023-01-11 15:44:22 +01:00 (CET) |
| Date last edited |
N/A |

Variant on transcripts
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