OMOP Concept 35979000

MTOR on GRCh38 chr1: Substitution in position 11114338 of A replaced by G measurement

StandardMeasurementOMOP GenomicOMOP5092484Gene 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 MTOR on GRCh38 chr1: Substitution in position 11114338 of A replaced by G 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 on GRCh38 chr1: Substitution in position 11114338 of A replaced by G measurement across source vocabularies.

  • NC_000001.10:g.11174395A>G
  • NC_000001.11:g.11114338A>G
  • NC_000001.9:g.11096982A>G
  • NG_033239.1:g.153214T>C
  • NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)

Where it sits in the hierarchy

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

Broader concepts

(1)

Roll up to these when you need a wider cohort.

Narrower concepts

(2)

Included automatically when you query with descendants.

Get this concept via the API

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