All transcript variants in gene MTMR14

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001077525.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 11 c.1007G>A - r.(?) p.(Arg336Gln) g.9726311G>A g.9684627G>A - - MTMR14_000001 not in 820 control chromosomes; carrier father unaffected PubMed: Tosch 2006, OMIM:var0001 - rs121434509 Germline - 1/50 cases CNM - 0 - Johan den Dunnen
+?/. 11 c.1007G>A likely pathogenic r.(?) p.Arg336Gln g.9726311G>A - - - MTMR14_000001 expression cloning; COS-1 cells normal localisation, phosphatase activity 28% PubMed: Tosch 2006, OMIM:var0001 - - In vitro (cloned) - - AvaII 0 - Johan den Dunnen
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