OMOP Concept 19484749
EGFR protein: Substitution in position 709 of E replaced by an early stop codon measurement
StandardMeasurementOMOP GenomicOMOP5394222Gene Protein Variant
Maps from
0
Descendants
0
Valid from
26 Feb 2024
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Synonyms
Alternative names recorded for EGFR protein: Substitution in position 709 of E replaced by an early stop codon measurement across source vocabularies.
- EGFR E709Ter
- EGFR:p.Glu709Ter
- ENSP00000275493.2:p.Glu709Ter
- NP_005219.2:p.Glu709Ter
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(7)Roll up to these when you need a wider cohort.
- 1EGFR transcript: Deletion in position 2125 to 2129 measurement
- 1EGFR transcript: [Deletion in position 2125 to 2129; Substitution in position 2131 of G replaced by A]
- 1EGFR transcript: Substitution in position 2125 of G replaced by T measurement
- 2EGFR on GRCh38 chr7: Deletion in position 55173984 to 55173988 measurement
- 2EGFR on GRCh38 chr7: [Deletion in position 55173984 to 55173988; Substitution in position 55173990 of G replaced by A]
- 2EGFR on GRCh38 chr7: Substitution in position 55173984 of G replaced by T measurement
- 3EGFR (epidermal growth factor receptor) gene variant measurement
Get this concept via the API
Resolve EGFR protein: Substitution in position 709 of E replaced by an early stop codon 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/19484749?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card