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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