OMOP Concept 19608043
ESR1 protein: Substitution in position 537 of Y replaced by an early stop codon measurement
StandardMeasurementOMOP GenomicOMOP5521118Gene Protein Variant
Maps from
0
Descendants
0
Valid from
26 Feb 2024
Valid to
31 Dec 2099
OMOP concepts
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Synonyms
Alternative names recorded for ESR1 protein: Substitution in position 537 of Y replaced by an early stop codon measurement across source vocabularies.
- ENSP00000206249.3:p.Tyr537Ter
- ESR1:p.Tyr537Ter
- ESR1 Y537Ter
- NP_000116.2:p.Tyr537Ter
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(5)Roll up to these when you need a wider cohort.
- 1ESR1 transcript: Deletion in position 1611 measurement
- 1ESR1 transcript: Insertion in position 1610 to 1611 of ATGACC measurement
- 2ESR1 on GRCh38 chr6: Deletion in position 152098789 measurement
- 2ESR1 on GRCh38 chr6: Insertion in position 152098788 to 152098789 of ATGACC measurement
- 3ESR1 (estrogen receptor 1) gene variant measurement
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