MYBPC3 c.3614_3615delinsAT ;(p.R1205H)

Variant ID: 11-47354129-CC-AT

NM_000256.3(MYBPC3):c.3614_3615delinsAT;(p.R1205H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10

Variant appearance in text: MYBPC3: Arg1205His
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
  • 439_2013_Article_1331.pdf
View BVdb publication page