OMOP Concept 19481317
CHEK2 protein: Substitution in position 139 of Y replaced by an early stop codon measurement
StandardMeasurementOMOP GenomicOMOP5390595Gene Protein Variant
Maps from
0
Descendants
0
Valid from
26 Feb 2024
Valid to
31 Dec 2099
OMOP concepts
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Synonyms
Alternative names recorded for CHEK2 protein: Substitution in position 139 of Y replaced by an early stop codon measurement across source vocabularies.
- CHEK2:p.Tyr139Ter
- CHEK2 Y139Ter
- ENSP00000385747.1:p.Tyr139Ter
- NP_009125.1:p.Tyr139Ter
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