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     
+/. 7 c.569G>C r.(?) p.(Arg190Thr) - pathogenic g.23901040C>G g.23431831C>G - - MYH7_000064 - PubMed: Bundgaard 1999 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.569G>C r.(?) p.(Arg190Thr) - pathogenic g.23901040C>G g.23431831C>G X52889.1:6283G>C - MYH7_000064 - PubMed: Bundgaard 1999 - - Unknown - - - 0 - Johan den Dunnen
+/. 7 c.569G>C r.(?) p.(Arg190Thr) - pathogenic g.23901040C>G g.23431831C>G X52889.1:6283G>C - MYH7_000064 - Andersen AJHG1998 63:A349 - - Unknown - - - 0 - Johan den Dunnen
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