Variant #0000845522 (NC_000004.11:g.76788552G>A, NM_006239.2:c.1670C>T (PPEF2))
Individual ID |
00407356 |
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.76788552G>A |
DNA change (hg38) |
- |
Published as |
c.1670C>T |
ISCN |
- |
DB-ID |
PPEF2_000005 |
Variant remarks |
- |
Reference |
PubMed: BorrĂ s 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
no |
Frequency |
Novel |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2022-04-06 13:32:24 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|