Variant ID: 1-241672043-C-T

NM_000143.3(FH):c.598G>A;(p.Ala200Thr)

This variant was identified in 2 publications




Publications:


The Influence of Mayenite Employed as a Functional Component on Hydration Properties of Ordinary Portland Cement.

Materials (Basel, Switzerland)
Z He, Y Li
Publication Date: 2018-10-12

Variant appearance in text: N/A
PubMed Link: 30322024
Variant Present in the following documents:
View BVdb publication page



Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: FH: 598G>A; A200T
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366560.3 c.598G>A p.Ala200Thr missense_variant 5/10 -
NM_000143.3 c.598G>A p.Ala200Thr missense_variant 5/10 -