LDLR c.1263C>G ;(p.S421R)

Variant ID: 19-11224030-C-G

NM_000527.4(LDLR):c.1263C>G;(p.S421R)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: LDLR: Ser421Arg
PubMed Link: 34521694
Variant Present in the following documents:
  • heartjnl-2021-319742supp001.pdf
View BVdb publication page