Variant #0000442698 (NC_000003.11:g.9726292T>A, MTMR14(NM_001077525.2):c.988T>A)
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
NA |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.9726292T>A |
DNA change (hg38) |
g.9684608T>A |
Published as |
- |
ISCN |
- |
DB-ID |
MTMR14_000003 |
Variant remarks |
expression cloning; COS-1 cells normal localisation, phosphatase activity 23% |
Reference |
PubMed: Tosch 2006 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
In vitro (cloned) |
Segregation |
- |
Frequency |
- |
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 |
2020-07-14 21:56:45 +02:00 (CEST) |

Variant on transcripts
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