Variant #0000442697 (NC_000003.11:g.9730718A>G, MTMR14(NM_001077525.2):c.1385A>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.9730718A>G
DNA change (hg38) g.9689034A>G
Published as -
ISCN -
DB-ID MTMR14_000002 See all 3 reported entries
Variant remarks expression cloning; COS-1 cells normal localisation, phosphatase activity 80%
Reference PubMed: Tosch 2006, OMIM:var0002
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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 21:59:34 +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 -?/. 16 c.1385A>G r.(?) p.(Tyr462Cys)