OMOP Concept 19609988
SMARCA4 protein: Frameshift substitution in position 78 of S replaced by Y followed by a new reading frame extending for 3 amino acids measurement
StandardMeasurementOMOP GenomicOMOP5523124Gene 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 SMARCA4 protein: Frameshift substitution in position 78 of S replaced by Y followed by a new reading frame extending for 3 amino acids measurement across source vocabularies.
- ENSP00000343896.4:p.Ser78TyrfsTer3
- ENSP00000495368.1:p.Ser78TyrfsTer3
- NP_001374212.1:p.Ser78TyrfsTer3
- NP_003063.2:p.Ser78TyrfsTer3
- SMARCA4:p.Ser78TyrfsTer3
- SMARCA4 S78Y_fs_Ter3
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(3)Roll up to these when you need a wider cohort.
- 1SMARCA4 transcript: Deletion in position 233 to 237 and Insertion of ACC measurement
- 2SMARCA4 on GRCh38 chr19: Deletion in position 10985283 to 10985287 and Insertion of ACC measurement
- 3SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4) gene variant measurement
Get this concept via the API
Resolve SMARCA4 protein: Frameshift substitution in position 78 of S replaced by Y followed by a new reading frame extending for 3 amino acids 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/19609988?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card