List of variants in gene EIF2AK4 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001013703.4(EIF2AK4):c.4562-8G>T	rs2250402	0.92552
NM_001013703.4(EIF2AK4):c.1667A>G (p.Glu556Gly)	rs2307105	0.91697
NM_001013703.4(EIF2AK4):c.3408-14G>C	rs2279580	0.35755
NM_001013703.4(EIF2AK4):c.4215C>T (p.Gly1405=)	rs3207297	0.35044
NM_001013703.4(EIF2AK4):c.2249+7G>A	rs34298786	0.34203
NM_001013703.4(EIF2AK4):c.1321A>C (p.Ile441Leu)	rs2291627	0.14091
NM_001013703.4(EIF2AK4):c.3916G>T (p.Gly1306Cys)	rs35602605	0.12451
NM_001013703.4(EIF2AK4):c.2205CGA[5] (p.Asp736_Asp737dup)	rs377237751
NM_001013703.4(EIF2AK4):c.4593del (p.Ile1533fs)	rs1327297003

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.