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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. 5 c.428G>A r.(?) p.(Arg143Gln) - pathogenic g.23901922C>T g.23432713C>T - - MYH7_000054 - PubMed: Kimura 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.428G>A r.(?) p.(Arg143Gln) - pathogenic g.23901922C>T g.23432713C>T X52889.1:5410G>A - MYH7_000054 - Koyanagi Circulation 1996 94:I84 - - Unknown - - - 0 - Johan den Dunnen
+?/. - c.428G>A r.(?) p.(Arg143Gln) - likely pathogenic g.23901922C>T g.23432713C>T - - MYH7_000054 - PubMed: Walsh 2017 - - Germline - 2/3200 cases - 0 - Johan den Dunnen
+?/. - c.428G>A r.(?) p.(Arg143Gln) - likely pathogenic g.23901922C>T g.23432713C>T - - MYH7_000054 - PubMed: Walsh 2017 - - Germline - 5/2912 cases - 0 - Johan den Dunnen
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