Variant #0000629262 (NC_000018.9:g.59810570A>C, NM_176787.4:c.932T>G (PIGN))
| Individual ID |
00274143 |
| Chromosome |
18 |
| Allele |
Maternal (confirmed) |
| 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.59810570A>C |
| DNA change (hg38) |
g.62143337A>C |
| Published as |
- |
| ISCN |
- |
| DB-ID |
PIGN_000050 See all 4 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Pronicka 2016 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
1/113 cases |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
3.0E-5 View details |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2019-12-24 17:05:37 +01:00 (CET) |
| Date last edited |
2021-05-22 19:05:57 +02:00 (CEST) |

Variant on transcripts
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