Variant #0000439016 (NC_000020.10:g.44053221T>A, NC_000020.10(NM_015937.5):c.1484+2T>A (PIGT))
| Chromosome |
20 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Probably affects function |
| Classification method |
- |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.44053221T>A |
| DNA change (hg38) |
g.45424581T>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
PIGT_000029 |
| Variant remarks |
- |
| Reference |
PubMed: Knaus et al. 2018 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline/De novo (untested) |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Philippe Campeau |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Philippe Campeau |
| Date created |
2018-12-03 22:28:20 +01:00 (CET) |
| Date last edited |
2020-07-16 17:41:17 +02:00 (CEST) |

Variant on transcripts
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