Variant #0000870503 (NC_000001.10:g.909768A>G, NC_000001.10(NM_032129.2):c.1702+24A>G (PLEKHN1))
Individual ID |
00000042 |
Chromosome |
1 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.909768A>G |
Reference |
- |
DB-ID |
PLEKHN1_000004 See all 31 reported entries |
Frequency |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
0.99996 View details |
Owner |
LOVD |
Database submission license |
No license selected |
Created by |
LOVD |
Date created |
2016-08-24 20:11:30 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|
|