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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTMR14 NM_001077525.2 +?/. 11 c.988T>A r.(?) p.Cys330Ser