OMOP Concept 35979499

CHEK2 on GRCh38 chr22: Substitution in position 28725270 of G replaced by T measurement

StandardMeasurementOMOP GenomicOMOP5069641Gene DNA Variant
Maps from
2
Descendants
2
Valid from
26 Feb 2024
Valid to
31 Dec 2099
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Source codes that map to this concept

2 source codes normalize to CHEK2 on GRCh38 chr22: Substitution in position 28725270 of G replaced by T measurement via the OMOP "Maps to" relationship.

VocabularyCodeNameType
ClinVar432970NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)Non-standard
JAX32758CHEK2:Y139*Non-standard

Synonyms

Alternative names recorded for CHEK2 on GRCh38 chr22: Substitution in position 28725270 of G replaced by T measurement across source vocabularies.

  • NC_000022.10:g.29121258G>T
  • NC_000022.11:g.28725270G>T
  • NC_000022.9:g.27451258G>T
  • NG_008150.1:g.21565C>A
  • NG_008150.2:g.21597C>A
  • NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)

Where it sits in the hierarchy

Ordered by distance - 1 is a direct parent or child.

Broader concepts

(1)

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Narrower concepts

(2)

Included automatically when you query with descendants.

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