All variants in the MTM1 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000252.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
+/. 6 c.386_387insA r.(?) p.(Ser129Argfs*7) - pathogenic g.149787554_149787555insA g.150619081_150619082insA A insertion at nucleotide 440 - MTM1_000228 de novo, in patient PubMed: Tachi 2001 - - De novo - - - - - Jorge Oliveira
Legend   How to query