Project HERA

EIF1AX variants

Every EIF1AX variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

7 variants

EIF1AX variants

Newest first. Each row opens the full report, criterion by criterion.

7 shown

Variant

Protein change

Classification

EIF1AX NM_001412.4:c.43G>T

NP_001403.1:p.(G15C)

EIF1AX NM_001412.4:c.5C>T

NP_001403.1:p.(P2L)

EIF1AX NM_001412.4:c.338-1G>C

NP_001403.1:p.?

Likely Pathogenic

EIF1AX NM_001412.4:c.25G>C

NP_001403.1:p.(G9R)

EIF1AX NM_001412.4:c.26G>A

NP_001403.1:p.(G9D)

EIF1AX NM_001412.4:c.17G>T

NP_001403.1:p.(G6V)

EIF1AX NM_001412.4:c.44G>T

NP_001403.1:p.(G15V)