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Variant profile

H1904L

H1904L · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
2Associated gene records
2Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
MYH7HGNC:757711
MYH6HGNC:757611

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
cardiomyopathyHP:000163811
congenital myopathy11

Associated population records

Co-mentioned in the same publications

No retained population associations.

Supporting publications

1 records
  1. 2004Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.NeurologyPubMed ↗