Variant #0000659763 (NC_000009.11:g.80942966G>T, NC_000009.11(NM_021154.3):c.870-1G>T (PSAT1))
| Individual ID |
00295970 |
| 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.80942966G>T |
| DNA change (hg38) |
g.78328980G>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
PSAT1_000012 See all 3 reported entries |
| Variant remarks |
Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
| Owner |
Fatima Abdelfattah |
| Database submission license |
No license selected |
| Created by |
Fatima Abdelfattah |
| Date created |
2020-03-31 12:27:52 +02:00 (CEST) |
| Date last edited |
2020-04-26 10:45:36 +02:00 (CEST) |

Variant on transcripts
Screenings
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