All variants in the MYOZ2 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_016599.4 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
-/. - c.459A>G r.(?) p.(Glu153=) - benign g.120085448A>G g.119164293A>G MYOZ2(NM_016599.4):c.459A>G (p.E153=), MYOZ2(NM_016599.5):c.459A>G (p.E153=) - MYOZ2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.459A>G r.(?) p.(Glu153=) - benign g.120085448A>G g.119164293A>G MYOZ2(NM_016599.4):c.459A>G (p.E153=), MYOZ2(NM_016599.5):c.459A>G (p.E153=) - MYOZ2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 5 c.459A>G r.(?) p.(=) - likely benign g.120085448A>G g.119164293A>G E152E - MYOZ2_000004 - PubMed: Aurino 2008 - rs7687613 Germline - 2/180 - - - Johan den Dunnen
?/. 5 c.459A>G r.(?) p.(=) - VUS g.120085448A>G g.119164293A>G E153E - MYOZ2_000004 - PubMed: Posch 2007 - rs7687613 Germline - 1/61 patients - - - Johan den Dunnen
-?/. 5 c.459A>G r.(?) p.(=) - likely benign g.120085448A>G g.119164293A>G 28428A>G (Glu153Glu) - MYOZ2_000004 - PubMed: Osio 2007 - rs7687613 Germline - - - - - Johan den Dunnen
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