Variant #0000664282 (NC_000009.11:g.80919755C>T, NM_021154.3:c.296C>T (PSAT1))
Individual ID |
00300236 |
Chromosome |
9 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.80919755C>T |
DNA change (hg38) |
g.78304839C>T |
Published as |
- |
ISCN |
- |
DB-ID |
PSAT1_000016 See all 6 reported entries |
Variant remarks |
we were not able to identify the second allele. We had just the maternal sample and FFPE from the index. Also it was impossible to have the paternal sample. The parents were separated |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00017 View details |
Owner |
Fatima Abdelfattah |
Database submission license |
No license selected |
Created by |
Fatima Abdelfattah |
Date created |
2020-04-24 14:51:27 +02:00 (CEST) |
Date last edited |
2020-04-26 11:04:55 +02:00 (CEST) |

Variant on transcripts
Screenings
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