Variant #0001020116 (NC_000002.11:g.198571802A>G, NM_138395.3:c.1673A>G (MARS2))
Individual ID |
00444098 |
Chromosome |
2 |
Allele |
Both (homozygous) |
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.198571802A>G |
DNA change (hg38) |
g.197707078A>G |
Published as |
NM_001198534.1:c.15G>A (Trp5Ter) |
ISCN |
- |
DB-ID |
MARS2_000018 |
Variant remarks |
- |
Reference |
PubMed: Bayam 2024 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
8.0E-5 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2024-12-27 15:44:54 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|