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
Screenings
|