OMOP Concept 1803872
EGFR transcript: Substitution in position 2155 of G replaced by T measurement
StandardMeasurementOMOP GenomicOMOP5073016Gene RNA Variant
Maps from
4
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.
Source codes that map to this concept
4 source codes normalize to EGFR transcript: Substitution in position 2155 of G replaced by T measurement via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CGI | chr7:g.55241707G>T | chr7:g.55241707G>T | Non-standard |
| ClinVar | 31650 | NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) | Non-standard |
| JAX | 982 | EGFR:G719C | Non-standard |
| NCIt | C98523 | A nucleotide substitution at position 2155 of the coding sequence of the EGFR gene where guanine has been mutated to thymine. | Non-standard |
Synonyms
Alternative names recorded for EGFR transcript: Substitution in position 2155 of G replaced by T measurement across source vocabularies.
- ENST00000275493.7:c.2155G>T
- NM_005228.5:c.2155G>T
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 EGFR transcript: Substitution in position 2155 of G replaced by T 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/1803872?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card