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     
+/. 3 c.115G>A r.(?) p.(Val39Met) - pathogenic g.23902827C>T g.23433618C>T - - MYH7_000042 - PubMed: Richard 2003 - - Germline - - - 0 - Johan den Dunnen
?/. - c.115G>A r.(?) p.(Val39Met) - VUS g.23902827C>T g.23433618C>T MYH7(NM_000257.2):c.115G>A (p.V39M) - MYH7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.115G>A r.(?) p.(Val39Met) - VUS g.23902827C>T g.23433618C>T MYH7(NM_000257.2):c.115G>A (p.V39M) - MYH7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.115G>A r.(?) p.(Val39Met) - VUS g.23902827C>T g.23433618C>T - - MYH7_000042 - PubMed: Walsh 2017 - - Germline - 1/2912 cases - 0 - Johan den Dunnen
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