Project HERA

CHEK1 variants

Every CHEK1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

7 variants

CHEK1 variants

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

7 shown

Variant

Protein change

Classification

CHEK1 NM_001274.5:c.484C>T

NP_001265.2:p.(R162C)

CHEK1 NM_001274.5:c.965G>A

NP_001265.2:p.(R322H)

CHEK1 NM_001274.5:c.1070G>A

NP_001265.2:p.(S357N)

CHEK1 NM_001274.5:c.709G>T

NP_001265.2:p.(A237S)

CHEK1 NM_001274.5:c.922A>T

NP_001265.2:p.(S308C)

CHEK1 NM_001274.5:c.157A>G

NP_001265.2:p.(K53E)

CHEK1 NM_001274.5:c.1148A>T

NP_001265.2:p.(K383I)