Genomic variant #0000442698

Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.9726292T>A
DNA change (hg38) -
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 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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