Variant #0000442694 (NC_000003.11:g.9739329C>T, MTMR14(NM_001077525.2):c.1614-66C>T)
Individual ID |
00210162 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.9739329C>T |
DNA change (hg38) |
g.9697645C>T |
Published as |
- |
ISCN |
- |
DB-ID |
MTMR14_000031 |
Variant remarks |
- |
Reference |
PubMed: Tosch 2006 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
0.03 |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2010-05-30 22:33:42 +02:00 (CEST) |
Date last edited |
2012-11-02 20:42:57 +01:00 (CET) |

Variant on transcripts
Screenings
|
|