Variant #0000400776 (NC_000001.10:g.150991126G>A, NM_021222.1:c.316G>A (PRUNE))
| Individual ID |
00177008 |
| Chromosome |
1 |
| Allele |
Both (homozygous) |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.150991126G>A |
| DNA change (hg38) |
g.151018650G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
PRUNE_000002 See all 4 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Papuc 2019 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
5.0E-5 View details |
| Owner |
Anaïs Begemann |
| Database submission license |
No license selected |
| Created by |
Anaïs Begemann |
| Date created |
2018-08-16 11:09:46 +02:00 (CEST) |
| Date last edited |
2021-12-27 21:41:53 +01:00 (CET) |

Variant on transcripts
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