Variant #0000675132 (NC_000004.11:g.5743512T>C, NM_153717.2:c.772T>C (EVC))
Individual ID |
00307099 |
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5743512T>C |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
EVC_000007 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.79674 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-07-31 10:33:21 +02:00 (CEST) |
Date last edited |
2020-07-31 10:34:22 +02:00 (CEST) |

Variant on transcripts
Screenings
|