Variant ID: 1-55523779-C-G

NM_174936.3(PCSK9):c.1251C>G;(p.H417Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Case-finding and genetic testing for familial hypercholesterolaemia in primary care.

Heart (British Cardiac Society)
Qureshi, Nadeem N; Akyea, Ralph Kwame RK; Dutton, Brittany B; Humphries, Steve E SE; Abdul Hamid, Hasidah H; Condon, Laura L; Weng, Stephen F SF; Kai, Joe J; ,
Publication Date: 2021-12

Variant appearance in text: PCSK9: His417Gln
PubMed Link: 34521694
Variant Present in the following documents:
  • heartjnl-2021-319742supp001.pdf
View BVdb publication page