Variant #0000872745 (NC_000003.11:g.3188149A>G, NM_182916.2:c.644A>G (TRNT1))
Individual ID |
00413741 |
Chromosome |
3 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.3188149A>G |
DNA change (hg38) |
- |
Published as |
H215R/H215R |
ISCN |
- |
DB-ID |
TRNT1_000028 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Giannelou-2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2022-07-22 03:34:11 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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