Variant #0000659765 (NC_000009.11:g.80921295G>C, NM_021154.3:c.463G>C (PSAT1))
| Individual ID |
00295972 |
| Chromosome |
9 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.80921295G>C |
| DNA change (hg38) |
g.78306379G>C |
| Published as |
- |
| ISCN |
- |
| DB-ID |
PSAT1_000014 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Fatima Abdelfattah |
| Database submission license |
No license selected |
| Created by |
Fatima Abdelfattah |
| Date created |
2020-03-31 12:49:46 +02:00 (CEST) |
| Date last edited |
2020-04-17 19:23:43 +02:00 (CEST) |

Variant on transcripts
Screenings
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