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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 3i c.137-4A>G r.spl? p.? - pathogenic g.149767052A>G g.150598588A>G - - MTM1_000027 affects acceptor splice site PubMed: Tsai 2005 - - Germline - - - - - Jorge Oliveira
+/. 3i c.137-4A>G r.spl? p.? - pathogenic g.149767052A>G g.150598588A>G - - MTM1_000027 affects acceptor splice site - - - Germline - - - - - Wolfram Kress
+/. 3i c.137-4A>G r.spl? p.? - pathogenic g.149767052A>G g.150598588A>G - - MTM1_000027 - PubMed: Biancalana 2003 - - Germline - - - - - Wolfram Kress
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