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.

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     
?/. - c.541G>A r.(?) p.(Gly181Arg) - VUS g.23901068C>T g.23431859C>T MYH7(NM_000257.2):c.541G>A (p.G181R) - MYH7_001002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.541G>A r.(?) p.(Gly181Arg) - likely pathogenic g.23901068C>T g.23431859C>T MYH7(NM_000257.2):c.541G>A (p.G181R) - MYH7_001002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.541G>A r.(?) p.(Gly181Arg) - likely pathogenic g.23901068C>T g.23431859C>T - - MYH7_001002 - PubMed: Walsh 2017 - - Germline - 1/559 cases - 0 - Johan den Dunnen
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