OMOP Concept 35986009

CHEK2 transcript: Substitution in position 417 of C replaced by A measurement

StandardMeasurementOMOP GenomicOMOP5069017Gene RNA Variant
Maps from
2
Descendants
1
Valid from
26 Feb 2024
Valid to
31 Dec 2099
OMOP concepts

Concept Lookup Tool

Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.

Or try
DiabetesHypertensionAspirin

Source codes that map to this concept

2 source codes normalize to CHEK2 transcript: Substitution in position 417 of C replaced by A 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 transcript: Substitution in position 417 of C replaced by A measurement across source vocabularies.

  • ENST00000404276.6:c.417C>A
  • NM_007194.4:c.417C>A

Where it sits in the hierarchy

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

Broader concepts

(2)

Roll up to these when you need a wider cohort.

Narrower concepts

(1)

Included automatically when you query with descendants.

Get this concept via the API

Resolve CHEK2 transcript: Substitution in position 417 of C replaced by A measurement - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.

curl "https://api.omophub.com/v1/concepts/35986009?include_relationships=true" \
  -H "Authorization: Bearer $OMOPHUB_API_KEY"
Get your free API key3,000 calls/month free · no credit card