All variants in the MYH7 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_000257.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.77C>T r.(?) p.(Ala26Val) - VUS g.23902865G>A g.23433656G>A MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.77C>T r.(?) p.(Ala26Val) - VUS g.23902865G>A g.23433656G>A MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 3 c.77C>T r.(?) p.(Ala26Val) - pathogenic g.23902865G>A g.23433656G>A - - MYH7_000046 - PubMed: Song 2005 - - Germline - - - 0 - Johan den Dunnen
+?/. 3 c.77C>T r.(?) p.(Ala26Val) - likely pathogenic g.23902865G>A g.23433656G>A - - MYH7_000046 - PubMed: Wang 2008 - - Germline - - - 0 - Peikuan Cong
+/. 3 c.77C>T r.(?) p.(Ala26Val) - pathogenic g.23902865G>A g.23433656G>A X52889.1:4470C>T - MYH7_000046 - Koyanagi Circulation 1996 94:I110 - - Unknown - - - 0 - Johan den Dunnen
+?/. - c.77C>T r.(?) p.(Ala26Val) - likely pathogenic g.23902865G>A g.23433656G>A A26V - MYH7_000046 - PubMed: Matsushita 2007 - - Germline - - - 0 - Johan den Dunnen
?/. - c.77C>T r.(?) p.(Ala26Val) - VUS g.23902865G>A g.23433656G>A MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.77C>T r.(?) p.(Ala26Val) - likely benign g.23902865G>A g.23433656G>A MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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