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.

2 entries on 1 page. Showing entries 1 - 2.
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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.371C>T r.(?) p.(Thr124Ile) - pathogenic g.23901979G>A g.23432770G>A - - MYH7_000050 - PubMed: Rayment 1995 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.371C>T r.(?) p.(Thr124Ile) - pathogenic g.23901979G>A g.23432770G>A X52889.1:5353C>T - MYH7_000050 - Fananapazir Circulation 1992 86:I229 - - Unknown - - - 0 - Johan den Dunnen
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