OMOP Concept 35990937

MTOR transcript: Substitution in position 7280 of T replaced by C measurement

StandardMeasurementOMOP GenomicOMOP5092444Gene RNA Variant
Maps from
2
Descendants
1
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 MTOR transcript: Substitution in position 7280 of T replaced by C measurement via the OMOP "Maps to" relationship.

VocabularyCodeNameType
ClinVar404624NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)Non-standard
JAX32693MTOR:L2427PNon-standard

Synonyms

Alternative names recorded for MTOR transcript: Substitution in position 7280 of T replaced by C measurement across source vocabularies.

  • ENST00000361445.9:c.7280T>C
  • NM_004958.4:c.7280T>C

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.

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